In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Any method used for determining the location of and relative distances between genes on a chromosome.
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
Actual loss of portion of a chromosome.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.
Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.
The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
The alignment of CHROMOSOMES at homologous sequences.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.
The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Mapping of the KARYOTYPE of a cell.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.
Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Aberrant chromosomes with no ends, i.e., circular.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.
The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.
The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.
A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females.
The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.
A type of CELL NUCLEUS division, occurring during maturation of the GERM CELLS. Two successive cell nucleus divisions following a single chromosome duplication (S PHASE) result in daughter cells with half the number of CHROMOSOMES as the parent cells.
Structures within the CELL NUCLEUS of insect cells containing DNA.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.
Structures which are contained in or part of CHROMOSOMES.
The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.
A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.
The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
The possession of a third chromosome of any one type in an otherwise diploid cell.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none.
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
DNA constructs that are composed of, at least, all elements, such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, required for successful replication, propagation to and maintainance in progeny human cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.
A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.
A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
A technique with which an unknown region of a chromosome can be explored. It is generally used to isolate a locus of interest for which no probe is available but that is known to be linked to a gene which has been identified and cloned. A fragment containing a known gene is selected and used as a probe to identify other overlapping fragments which contain the same gene. The nucleotide sequences of these fragments can then be characterized. This process continues for the length of the chromosome.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Nucleoproteins, which in contrast to HISTONES, are acid insoluble. They are involved in chromosomal functions; e.g. they bind selectively to DNA, stimulate transcription resulting in tissue-specific RNA synthesis and undergo specific changes in response to various hormones or phytomitogens.
The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.
Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).
A microtubule structure that forms during CELL DIVISION. It consists of two SPINDLE POLES, and sets of MICROTUBULES that may include the astral microtubules, the polar microtubules, and the kinetochore microtubules.
Genetic loci associated with a QUANTITATIVE TRAIT.
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.
An aberration in which an extra chromosome or a chromosomal segment is made.
Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.
An individual having different alleles at one or more loci regarding a specific character.
Either of the two longitudinally adjacent threads formed when a eukaryotic chromosome replicates prior to mitosis. The chromatids are held together at the centromere. Sister chromatids are derived from the same chromosome. (Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
Genotypic differences observed among individuals in a population.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
The process by which a DNA molecule is duplicated.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.
Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.
A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.
Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
The first phase of cell nucleus division, in which the CHROMOSOMES become visible, the CELL NUCLEUS starts to lose its identity, the SPINDLE APPARATUS appears, and the CENTRIOLES migrate toward opposite poles.
The interval between two successive CELL DIVISIONS during which the CHROMOSOMES are not individually distinguishable. It is composed of the G phases (G1 PHASE; G0 PHASE; G2 PHASE) and S PHASE (when DNA replication occurs).
Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.
A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.
The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.
The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)
Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.
The relationships of groups of organisms as reflected by their genetic makeup.
Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.
The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.
A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.
Established cell cultures that have the potential to propagate indefinitely.
Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
Short tracts of DNA sequence that are used as landmarks in GENOME mapping. In most instances, 200 to 500 base pairs of sequence define a Sequence Tagged Site (STS) that is operationally unique in the human genome (i.e., can be specifically detected by the polymerase chain reaction in the presence of all other genomic sequences). The overwhelming advantage of STSs over mapping landmarks defined in other ways is that the means of testing for the presence of a particular STS can be completely described as information in a database.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
Male germ cells derived from SPERMATOGONIA. The euploid primary spermatocytes undergo MEIOSIS and give rise to the haploid secondary spermatocytes which in turn give rise to SPERMATIDS.
The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
Genes that are located on the X CHROMOSOME.
Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.
Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Genes that influence the PHENOTYPE only in the homozygous state.
The functional hereditary units of BACTERIA.
PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.
Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.
Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.
An individual in which both alleles at a given locus are identical.
An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE).
The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.
Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.
The degree of replication of the chromosome set in the karyotype.
Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.
The genetic complement of a plant (PLANTS) as represented in its DNA.
Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA.
A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.
Deoxyribonucleic acid that makes up the genetic material of fungi.
The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)
In the interphase nucleus, a condensed mass of chromatin representing an inactivated X chromosome. Each X CHROMOSOME, in excess of one, forms sex chromatin (Barr body) in the mammalian nucleus. (from King & Stansfield, A Dictionary of Genetics, 4th ed)
Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.
DNA present in neoplastic tissue.
Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.
Small chromosomal proteins (approx 12-20 kD) possessing an open, unfolded structure and attached to the DNA in cell nuclei by ionic linkages. Classification into the various types (designated histone I, histone II, etc.) is based on the relative amounts of arginine and lysine in each.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Slender, cylindrical filaments found in the cytoskeleton of plant and animal cells. They are composed of the protein TUBULIN and are influenced by TUBULIN MODULATORS.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
A characteristic symptom complex.
The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.
Deoxyribonucleic acid that makes up the genetic material of plants.
An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.
Proteins found in any species of bacterium.
DNA constructs that are composed of, at least, elements such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, that are required for successful replication, propagation to and maintenance in progeny cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.
The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.
Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.
A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)
A plant genus of the family POACEAE that is the source of EDIBLE GRAIN. A hybrid with rye (SECALE CEREALE) is called TRITICALE. The seed is ground into FLOUR and used to make BREAD, and is the source of WHEAT GERM AGGLUTININS.
Genes that are located on the Y CHROMOSOME.
The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.
Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.
A form of GENE LIBRARY containing the complete DNA sequences present in the genome of a given organism. It contrasts with a cDNA library which contains only sequences utilized in protein coding (lacking introns).
The mechanisms by which the SEX of an individual's GONADS are fixed.
Deletion of sequences of nucleic acids from the genetic material of an individual.

UCP4, a novel brain-specific mitochondrial protein that reduces membrane potential in mammalian cells. (1/1138)

Uncoupling proteins (UCPs) are a family of mitochondrial transporter proteins that have been implicated in thermoregulatory heat production and maintenance of the basal metabolic rate. We have identified and partially characterized a novel member of the human uncoupling protein family, termed uncoupling protein-4 (UCP4). Protein sequence analyses showed that UCP4 is most related to UCP3 and possesses features characteristic of mitochondrial transporter proteins. Unlike other known UCPs, UCP4 transcripts are exclusively expressed in both fetal and adult brain tissues. UCP4 maps to human chromosome 6p11.2-q12. Consistent with its potential role as an uncoupling protein, UCP4 is localized to the mitochondria and its ectopic expression in mammalian cells reduces mitochondrial membrane potential. These findings suggest that UCP4 may be involved in thermoregulatory heat production and metabolism in the brain.  (+info)

NKp44, a triggering receptor involved in tumor cell lysis by activated human natural killer cells, is a novel member of the immunoglobulin superfamily. (2/1138)

Surface receptors involved in natural killer (NK) cell triggering during the process of tumor cell lysis have recently been identified. Of these receptors, NKp44 is selectively expressed by IL-2- activated NK cells and may contribute to the increased efficiency of activated NK cells to mediate tumor cell lysis. Here we describe the molecular cloning of NKp44. Analysis of the cloned cDNA indicated that NKp44 is a novel transmembrane glycoprotein belonging to the Immunoglobulin superfamily characterized by a single extracellular V-type domain. The charged amino acid lysine in the transmembrane region may be involved in the association of NKp44 with the signal transducing molecule killer activating receptor-associated polypeptide (KARAP)/DAP12. These molecules were found to be crucial for the surface expression of NKp44. In agreement with data of NKp44 surface expression, the NKp44 transcripts were strictly confined to activated NK cells and to a minor subset of TCR-gamma/delta+ T lymphocytes. Unlike genes coding for other receptors involved in NK cell triggering or inhibition, the NKp44 gene is on human chromosome 6.  (+info)

The predisposition to type 1 diabetes linked to the human leukocyte antigen complex includes at least one non-class II gene. (3/1138)

The human leukocyte antigen (HLA) complex, encompassing 3.5 Mb of DNA from the centromeric HLA-DPB2 locus to the telomeric HLA-F locus on chromosome 6p21, encodes a major part of the genetic predisposition to develop type 1 diabetes, designated "IDDM1." A primary role for allelic variation of the class II HLA-DRB1, HLA-DQA1, and HLA-DQB1 loci has been established. However, studies of animals and humans have indicated that other, unmapped, major histocompatibility complex (MHC)-linked genes are participating in IDDM1. The strong linkage disequilibrium between genes in this complex makes mapping a difficult task. In the present paper, we report on the approach we have devised to circumvent the confounding effects of disequilibrium between class II alleles and alleles at other MHC loci. We have scanned 12 Mb of the MHC and flanking chromosome regions with microsatellite polymorphisms and analyzed the transmission of these marker alleles to diabetic probands from parents who were homozygous for the alleles of the HLA-DRB1, HLA-DQA1, and HLA-DQB1 genes. Our analysis, using three independent family sets, suggests the presence of an additional type I diabetes gene (or genes). This approach is useful for the analysis of other loci linked to common diseases, to verify if a candidate polymorphism can explain all of the association of a region or if the association is due to two or more loci in linkage disequilibrium with each other.  (+info)

Murine p38-delta mitogen-activated protein kinase, a developmentally regulated protein kinase that is activated by stress and proinflammatory cytokines. (4/1138)

The p38 mitogen-activated protein kinases (MAPK) play a crucial role in stress and inflammatory responses and are also involved in activation of the human immunodeficiency virus gene expression. We have isolated the murine cDNA clones encoding p38-delta MAPK, and we have localized the p38-delta gene to mouse chromosome 17A3-B and human chromosome 6p21.3. By using Northern and in situ hybridization, we have examined the expression of p38-delta in the mouse adult tissues and embryos. p38-delta was expressed primarily in the lung, testis, kidney, and gut epithelium in the adult tissues. Although p38-delta was expressed predominantly in the developing gut and the septum transversum in the mouse embryo at 9.5 days, its expression began to be expanded to many specific tissues in the 12.5-day embryo. At 15.5 days, p38-delta was expressed virtually in most developing epithelia in embryos, suggesting that p38-delta is a developmentally regulated MAPK. Interestingly, p38-delta and p38-alpha were similar serine/threonine kinases but differed in substrate specificity. Overall, p38-delta resembles p38-gamma, whereas p38-beta resembles p38-alpha. Moreover, p38-delta is activated by environmental stress, extracellular stimulants, and MAPK kinase-3, -4, -6, and -7, suggesting that p38-delta is a unique stress-responsive protein kinase.  (+info)

A genome search identifies major quantitative trait loci on human chromosomes 3 and 4 that influence cholesterol concentrations in small LDL particles. (5/1138)

Small, dense LDL particles are associated with increased risk of cardiovascular disease. To identify the genes that influence LDL size variation, we performed a genome-wide screen for cholesterol concentrations in 4 LDL size fractions. Samples from 470 members of randomly ascertained families were typed for 331 microsatellite markers spaced at approximately 15 cM intervals. Plasma LDLs were resolved by using nondenaturing gradient gel electrophoresis into 4 fraction sizes (LDL-1, 26.4 to 29.0 nm; LDL-2, 25.5 to 26.4 nm; LDL-3, 24.2 to 25.5 nm; and LDL-4, 21.0 to 24.2 nm) and cholesterol concentrations were estimated by staining with Sudan Black B. Linkage analyses used variance component methods that exploited all of the genotypic and phenotypic information in the large extended pedigrees. In multipoint linkage analyses with quantitative trait loci for the 4 fraction sizes, only LDL-3, a fraction containing small LDL particles, gave peak multipoint log10 odds in favor of linkage (LOD) scores that exceeded 3.0, a nominal criterion for evidence of significant linkage. The highest LOD scores for LDL-3 were found on chromosomes 3 (LOD=4.1), 4 (LOD=4.1), and 6 (LOD=2.9). In oligogenic analyses, the 2-locus LOD score (for chromosomes 3 and 4) increased significantly (P=0.0012) to 6.1, but including the third locus on chromosome 6 did not significantly improve the LOD score (P=0.064). Thus, we have localized 2 major quantitative trait loci that influence variation in cholesterol concentrations of small LDL particles. The 2 quantitative trait loci on chromosomes 3 and 4 are located in regions that contain the genes for apoD and the large subunit of the microsomal triglyceride transfer protein, respectively.  (+info)

Linkage of Crohn's disease to the major histocompatibility complex region is detected by multiple non-parametric analyses. (6/1138)

BACKGROUND: There is evidence for genetic susceptibility to Crohn's disease, and a tentative association with tumour necrosis factor (TNF) and HLA class II alleles. AIMS: To examine the potential of genetic linkage between Crohn's disease and the MHC region on chromosome 6p. METHODS: TNF microsatellite markers and, for some families, additional HLA antigens were typed for 323 individuals from 49 Crohn's disease multiplex families to generate informative haplotypes. Non-parametric linkage analysis methods, including sib pair and affected relative pair methods, were used. RESULTS: Increased sharing of haplotypes was observed in affected sib pairs: 92% (48/52) shared one or two haplotypes versus an expected 75% if linkage did not exist (p=0.004). After other affected relative pairs were included, the significance level reached 0.001. The mean proportion of haplotype sharing was increased for both concordant affected (pi=0.60, p=0.002) and unaffected sib pairs (pi=0.58, p=0. 031) compared with the expected value (pi=0.5). In contrast, sharing in discordant sib pairs was significantly decreased (pi=0.42, p=0. 007). Linear regression analysis using all three types of sib pairs yielded a slope of -0.38 at p=0.00003. It seemed that the HLA effect was stronger in non-Jewish families than in Jewish families. CONCLUSIONS: All available analytical methods support linkage of Crohn's disease to the MHC region in these Crohn's disease families. This region is estimated to contribute approximately 10-33% of the total genetic risk to Crohn's disease.  (+info)

Genetic linkage of IgA deficiency to the major histocompatibility complex: evidence for allele segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA antibodies in disease predisposition. (7/1138)

Immunoglobulin A (IgA) deficiency (IgAD) is characterized by a defect of terminal lymphocyte differentiation, leading to a lack of IgA in serum and mucosal secretions. Familial clustering, variable population prevalence in different ethnic groups, and a predominant inheritance pattern suggest a strong genetic predisposition to IgAD. The genetic susceptibility to IgAD is shared with a less prevalent, but more profound, defect called "common variable immunodeficiency" (CVID). Here we show an increased allele sharing at 6p21 in affected members of 83 multiplex IgAD/CVID pedigrees and demonstrate, using transmission/diseqilibrium tests, family-based associations indicating the presence of a predisposing locus, designated "IGAD1," in the proximal part of the major histocompatibility complex (MHC). The recurrence risk of IgAD was found to depend on the sex of parents transmitting the defect: affected mothers were more likely to produce offspring with IgAD than were affected fathers. Carrier mothers but not carrier fathers transmitted IGAD1 alleles more frequently to the affected offspring than would be expected under random segregation. The differential parent-of-origin penetrance is proposed to reflect a maternal effect mediated by the production of anti-IgA antibodies tentatively linked to IGAD1. This is supported by higher frequency of anti-IgA-positive females transmitting the disorder to children, in comparison with female IgAD nontransmitters, and by linkage data in the former group. Such pathogenic mechanisms may be shared by other MHC-linked complex traits associated with the production of specific autoantibodies, parental effects, and a particular MHC haplotype.  (+info)

Suppression of tumorigenicity in human ovarian cancer cell lines is controlled by a 2 cM fragment in chromosomal region 6q24-q25. (8/1138)

Multiple distinct regions of chromosome 6 are frequently affected by losses of heterozygosity in primary human ovarian carcinomas. We introduced a normal human chromosome 6 into HEY and SKOV-3 ovarian carcinoma cell lines using microcell-mediated chromosome transfer techniques to further investigate the role of this chromosome in ovarian tumorigenesis. The exogenous chromosome was stably propagated in the recipient cells based on fluorescence in situ hybridization (FISH) analyses with a chromosome 6 painting probe. The tumorigenicity of HEY and SKOV-3 cells was completely suppressed after transfer of chromosome 6, but not after transfer of a chromosome 11q13-qter fragment used as control. Using 46 polymorphic microsatellite markers, the region bounded by D6S1649 and D6S1564 was found to be commonly deleted in HEY: chromosome 6 tumorigenic revertant clones. The boundaries of the commonly deleted region could be further narrowed down to a 2 cM (based on the Whitehead genetic map) or 0.36 megabase (based on gdb mapping data) region between D6S1637 and D6S1564 after transferring the exogenous chromosome from revertants into mouse L cells and performing allelic deletion mapping studies against this mouse background. We conclude that this region contains a tumor suppressor gene important for the control of ovarian tumor development.  (+info)

There are several types of chromosome aberrations, including:

1. Chromosomal deletions: Loss of a portion of a chromosome.
2. Chromosomal duplications: Extra copies of a chromosome or a portion of a chromosome.
3. Chromosomal translocations: A change in the position of a chromosome or a portion of a chromosome.
4. Chromosomal inversions: A reversal of a segment of a chromosome.
5. Chromosomal amplifications: An increase in the number of copies of a particular chromosome or gene.

Chromosome aberrations can be detected through various techniques, such as karyotyping, fluorescence in situ hybridization (FISH), or array comparative genomic hybridization (aCGH). These tests can help identify changes in the chromosomal makeup of cells and provide information about the underlying genetic causes of disease.

Chromosome aberrations are associated with a wide range of diseases, including:

1. Cancer: Chromosome abnormalities are common in cancer cells and can contribute to the development and progression of cancer.
2. Birth defects: Many birth defects are caused by chromosome abnormalities, such as Down syndrome (trisomy 21), which is caused by an extra copy of chromosome 21.
3. Neurological disorders: Chromosome aberrations have been linked to various neurological disorders, including autism and intellectual disability.
4. Immunodeficiency diseases: Some immunodeficiency diseases, such as X-linked severe combined immunodeficiency (SCID), are caused by chromosome abnormalities.
5. Infectious diseases: Chromosome aberrations can increase the risk of infection with certain viruses, such as human immunodeficiency virus (HIV).
6. Ageing: Chromosome aberrations have been linked to the ageing process and may contribute to the development of age-related diseases.
7. Radiation exposure: Exposure to radiation can cause chromosome abnormalities, which can increase the risk of cancer and other diseases.
8. Genetic disorders: Many genetic disorders are caused by chromosome aberrations, such as Turner syndrome (45,X), which is caused by a missing X chromosome.
9. Rare diseases: Chromosome aberrations can cause rare diseases, such as Klinefelter syndrome (47,XXY), which is caused by an extra copy of the X chromosome.
10. Infertility: Chromosome abnormalities can contribute to infertility in both men and women.

Understanding the causes and consequences of chromosome aberrations is important for developing effective treatments and improving human health.

Some common effects of chromosomal deletions include:

1. Genetic disorders: Chromosomal deletions can lead to a variety of genetic disorders, such as Down syndrome, which is caused by a deletion of a portion of chromosome 21. Other examples include Prader-Willi syndrome (deletion of chromosome 15), and Williams syndrome (deletion of chromosome 7).
2. Birth defects: Chromosomal deletions can increase the risk of birth defects, such as heart defects, cleft palate, and limb abnormalities.
3. Developmental delays: Children with chromosomal deletions may experience developmental delays, learning disabilities, and intellectual disability.
4. Increased cancer risk: Some chromosomal deletions can increase the risk of developing certain types of cancer, such as chronic myelogenous leukemia (CML) and breast cancer.
5. Reproductive problems: Chromosomal deletions can lead to reproductive problems, such as infertility or recurrent miscarriage.

Chromosomal deletions can be diagnosed through a variety of techniques, including karyotyping (examination of the chromosomes), fluorescence in situ hybridization (FISH), and microarray analysis. Treatment options for chromosomal deletions depend on the specific effects of the deletion and may include medication, surgery, or other forms of therapy.

There are many different types of chromosome disorders, including:

1. Trisomy: This is a condition in which there is an extra copy of a chromosome. For example, Down syndrome is caused by an extra copy of chromosome 21.
2. Monosomy: This is a condition in which there is a missing copy of a chromosome.
3. Turner syndrome: This is a condition in which there is only one X chromosome instead of two.
4. Klinefelter syndrome: This is a condition in which there are three X chromosomes instead of the typical two.
5. Chromosomal translocations: These are abnormalities in which a piece of one chromosome breaks off and attaches to another chromosome.
6. Inversions: These are abnormalities in which a segment of a chromosome is reversed end-to-end.
7. Deletions: These are abnormalities in which a portion of a chromosome is missing.
8. Duplications: These are abnormalities in which there is an extra copy of a segment of a chromosome.

Chromosome disorders can have a wide range of effects on the body, depending on the type and severity of the condition. Some common features of chromosome disorders include developmental delays, intellectual disability, growth problems, and physical abnormalities such as heart defects or facial anomalies.

There is no cure for chromosome disorders, but treatment and support are available to help manage the symptoms and improve the quality of life for individuals with these conditions. Treatment may include medications, therapies, and surgery, as well as support and resources for families and caregivers.

Preventive measures for chromosome disorders are not currently available, but research is ongoing to understand the causes of these conditions and to develop new treatments and interventions. Early detection and diagnosis can help identify chromosome disorders and provide appropriate support and resources for individuals and families.

In conclusion, chromosome disorders are a group of genetic conditions that affect the structure or number of chromosomes in an individual's cells. These conditions can have a wide range of effects on the body, and there is no cure, but treatment and support are available to help manage symptoms and improve quality of life. Early detection and diagnosis are important for identifying chromosome disorders and providing appropriate support and resources for individuals and families.

When a chromosome breaks, it can lead to genetic instability and potentially contribute to the development of diseases such as cancer. Chromosome breakage can also result in the loss or gain of genetic material, which can further disrupt normal cellular function and increase the risk of disease.

There are several types of chromosome breakage, including:

1. Chromosomal aberrations: These occur when there is a change in the number or structure of the chromosomes, such as an extra copy of a chromosome (aneuploidy) or a break in a chromosome.
2. Genomic instability: This refers to the presence of errors in the genetic material that can lead to changes in the function of cells and tissues.
3. Chromosomal fragile sites: These are specific regions of the chromosomes that are more prone to breakage than other regions.
4. Telomere shortening: Telomeres are the protective caps at the ends of the chromosomes, and their shortening can lead to chromosome breakage and genetic instability.

Chromosome breakage can be detected through cytogenetic analysis, which involves staining the cells with dyes to visualize the chromosomes and look for any abnormalities. The detection of chromosome breakage can help diagnose certain diseases, such as cancer, and can also provide information about the risk of disease progression.

In summary, chromosome breakage is a type of genetic alteration that can occur as a result of various factors, including exposure to radiation or chemicals, errors during cell division, or aging. It can lead to genetic instability and increase the risk of diseases such as cancer. Detection of chromosome breakage through cytogenetic analysis can help diagnose certain diseases and provide information about the risk of disease progression.

Ring chromosomes are relatively rare, occurring in about 1 in every 10,000 to 20,000 births. They can be caused by a variety of factors, including genetic mutations, errors during cell division, or exposure to certain chemicals or radiation.

Ring chromosomes can affect anyone, regardless of age or gender. However, they are more common in certain populations, such as people with a family history of the condition or those who have certain medical conditions like Down syndrome or Turner syndrome.

The symptoms of ring chromosomes can vary widely and may include:

* Delayed growth and development
* Intellectual disability or learning difficulties
* Speech and language problems
* Vision and hearing impairments
* Heart defects
* Bone and joint problems
* Increased risk of infections and other health problems

Ring chromosomes can be diagnosed through a variety of tests, including karyotyping, fluorescence in situ hybridization (FISH), and microarray analysis. Treatment for the condition typically focuses on managing any associated health problems and may include medication, surgery, or other interventions.

In some cases, ring chromosomes can be inherited from one's parents. However, many cases are not inherited and occur spontaneously due to a genetic mutation. In these cases, the risk of recurrence in future pregnancies is generally low.

Overall, ring chromosomes are a complex and relatively rare chromosomal abnormality that can have a significant impact on an individual's health and development. With proper diagnosis and treatment, many people with ring chromosomes can lead fulfilling lives, but it is important to work closely with medical professionals to manage any associated health problems.

Inversions are classified based on their location along the chromosome:

* Interstitial inversion: A segment of DNA is reversed within a larger gene or group of genes.
* Pericentric inversion: A segment of DNA is reversed near the centromere, the region of the chromosome where the sister chromatids are most closely attached.

Chromosome inversions can be detected through cytogenetic analysis, which allows visualization of the chromosomes and their structure. They can also be identified using molecular genetic techniques such as PCR (polymerase chain reaction) or array comparative genomic hybridization (aCGH).

Chromosome inversions are relatively rare in the general population, but they have been associated with various developmental disorders and an increased risk of certain diseases. For example, individuals with an inversion on chromosome 8p have an increased risk of developing cancer, while those with an inversion on chromosome 9q have a higher risk of developing neurological disorders.

Inversions can be inherited from one or both parents, and they can also occur spontaneously as a result of errors during DNA replication or repair. In some cases, inversions may be associated with other genetic abnormalities, such as translocations or deletions.

Overall, chromosome inversions are an important aspect of human genetics and can provide valuable insights into the mechanisms underlying developmental disorders and disease susceptibility.

https://www.medicinenet.com › Medical Dictionary › G

A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.

Genetic Translocation | Definition & Facts | Britannica
https://www.britannica.com › science › Genetic-tr...

Genetic translocation, also called chromosomal translocation, a type of chromosomal aberration in which a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material. Genetic translocations are often found in cancer cells and may play a role in the development and progression of cancer.

Translocation, Genetic | health Encyclopedia - UPMC
https://www.upmc.com › health-library › gene...

A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.

Genetic Translocation | Genetics Home Reference - NIH
https://ghr.nlm.nih.gov › condition › ge...

A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.

In conclusion, Genetic Translocation is an abnormality in the number or arrangement of chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome, resulting in a gain or loss of genetic material that can have significant effects on the individual.

There are several types of aneuploidy, including:

1. Trisomy: This is the presence of an extra copy of a chromosome. For example, Down syndrome is caused by an extra copy of chromosome 21 (trisomy 21).
2. Monosomy: This is the absence of a chromosome.
3. Mosaicism: This is the presence of both normal and abnormal cells in the body.
4. Uniparental disomy: This is the presence of two copies of a chromosome from one parent, rather than one copy each from both parents.

Aneuploidy can occur due to various factors such as errors during cell division, exposure to certain chemicals or radiation, or inheritance of an abnormal number of chromosomes from one's parents. The risk of aneuploidy increases with age, especially for women over the age of 35, as their eggs are more prone to errors during meiosis (the process by which egg cells are produced).

Aneuploidy can be diagnosed through various methods such as karyotyping (examining chromosomes under a microscope), fluorescence in situ hybridization (FISH) or quantitative PCR. Treatment for aneuploidy depends on the underlying cause and the specific health problems it has caused. In some cases, treatment may involve managing symptoms, while in others, it may involve correcting the genetic abnormality itself.

In summary, aneuploidy is a condition where there is an abnormal number of chromosomes present in a cell, which can lead to various developmental and health problems. It can occur due to various factors and can be diagnosed through different methods. Treatment depends on the underlying cause and the specific health problems it has caused.

Trisomy is caused by an extra copy of a chromosome, which can be due to one of three mechanisms:

1. Trisomy 21 (Down syndrome): This is the most common type of trisomy and occurs when there is an extra copy of chromosome 21. It is estimated to occur in about 1 in every 700 births.
2. Trisomy 13 (Patau syndrome): This type of trisomy occurs when there is an extra copy of chromosome 13. It is estimated to occur in about 1 in every 10,000 births.
3. Trisomy 18 (Edwards syndrome): This type of trisomy occurs when there is an extra copy of chromosome 18. It is estimated to occur in about 1 in every 2,500 births.

The symptoms of trisomy can vary depending on the type of trisomy and the severity of the condition. Some common symptoms include:

* Delayed physical growth and development
* Intellectual disability
* Distinctive facial features, such as a flat nose, small ears, and a wide, short face
* Heart defects
* Vision and hearing problems
* GI issues
* Increased risk of infection

Trisomy can be diagnosed before birth through prenatal testing, such as chorionic villus sampling (CVS) or amniocentesis. After birth, it can be diagnosed through a blood test or by analyzing the child's DNA.

There is no cure for trisomy, but treatment and support are available to help manage the symptoms and improve the quality of life for individuals with the condition. This may include physical therapy, speech therapy, occupational therapy, and medication to manage heart defects or other medical issues. In some cases, surgery may be necessary to correct physical abnormalities.

The prognosis for trisomy varies depending on the type of trisomy and the severity of the condition. Some forms of trisomy are more severe and can be life-threatening, while others may have a more mild impact on the individual's quality of life. With appropriate medical care and support, many individuals with trisomy can lead fulfilling lives.

In summary, trisomy is a genetic condition that occurs when there is an extra copy of a chromosome. It can cause a range of symptoms and can be diagnosed before or after birth. While there is no cure for trisomy, treatment and support are available to help manage the symptoms and improve the quality of life for individuals with the condition.

There are several types of genetic nondisjunction, including:

1. Robertsonian translocation: This type of nondisjunction involves the exchange of genetic material between two chromosomes, resulting in a mixture of genetic information that can lead to developmental abnormalities.
2. Turner syndrome: This is a rare condition that occurs when one X chromosome is missing or partially present, leading to physical and developmental abnormalities in females.
3. Klinefelter syndrome: This condition occurs when an extra X chromosome is present, leading to physical and developmental abnormalities in males.
4. Trisomy 13: This condition occurs when there are three copies of chromosome 13, leading to severe developmental and physical abnormalities.
5. Trisomy 18: This condition occurs when there are three copies of chromosome 18, leading to severe developmental and physical abnormalities.

Genetic nondisjunction can be caused by various factors, including genetic mutations, errors during meiosis, or exposure to certain chemicals or radiation. It can be diagnosed through cytogenetic analysis, which involves studying the chromosomes of cells to identify any abnormalities.

Treatment for genetic nondisjunction depends on the specific type and severity of the condition. In some cases, no treatment is necessary, while in others, medication or surgery may be recommended. Prenatal testing can also be done to detect genetic nondisjunction before birth.

In summary, genetic nondisjunction is a chromosomal abnormality that occurs during meiosis and can lead to developmental and physical abnormalities. It can be caused by various factors and diagnosed through cytogenetic analysis. Treatment depends on the specific type and severity of the condition, and prenatal testing is available to detect genetic nondisjunction before birth.

Causes of Chromosomal Instability:

1. Genetic mutations: Mutations in genes that regulate the cell cycle or chromosome segregation can lead to CIN.
2. Environmental factors: Exposure to certain environmental agents such as radiation and certain chemicals can increase the risk of developing CIN.
3. Errors during DNA replication: Mistakes during DNA replication can also lead to CIN.

Types of Chromosomal Instability:

1. Aneuploidy: Cells with an abnormal number of chromosomes, either more or fewer than the normal diploid number (46 in humans).
2. Structural changes: Deletions, duplications, inversions, translocations, and other structural changes can occur in the chromosomes.
3. Unstable chromosome structures: Chromosomes with abnormal shapes or structures, such as telomere shortening, centromere instability, or chromosome breaks, can also lead to CIN.

Effects of Chromosomal Instability:

1. Cancer: CIN can increase the risk of developing cancer by disrupting normal cellular processes and leading to genetic mutations.
2. Aging: CIN can contribute to aging by shortening telomeres, which are the protective caps at the ends of chromosomes that help maintain their stability.
3. Neurodegenerative diseases: CIN has been implicated in the development of certain neurodegenerative diseases such as Alzheimer's and Parkinson's.
4. Infertility: CIN can lead to infertility by disrupting normal meiotic recombination and chromosome segregation during gametogenesis.

Detection and Diagnosis of Chromosomal Instability:

1. Karyotyping: This is a technique used to visualize the entire set of chromosomes in a cell. It can help identify structural abnormalities such as deletions, duplications, or translocations.
2. Fluorescence in situ hybridization (FISH): This technique uses fluorescent probes to detect specific DNA sequences or proteins on chromosomes. It can help identify changes in chromosome structure or number.
3. Array comparative genomic hybridization (aCGH): This technique compares the genetic material of a sample to a reference genome to identify copy number changes.
4. Next-generation sequencing (NGS): This technique can identify point mutations and other genetic changes in DNA.

Treatment and Management of Chromosomal Instability:

1. Cancer treatment: Depending on the type and stage of cancer, treatments such as chemotherapy, radiation therapy, or surgery may be used to eliminate cancer cells with CIN.
2. Prenatal testing: Pregnant women with a family history of CIN can undergo prenatal testing to detect chromosomal abnormalities in their fetuses.
3. Genetic counseling: Individuals with a family history of CIN can consult with a genetic counselor to discuss risk factors and potential testing options.
4. Lifestyle modifications: Making healthy lifestyle choices such as maintaining a balanced diet, exercising regularly, and not smoking can help reduce the risk of developing cancer and other diseases associated with CIN.

In conclusion, chromosomal instability is a common feature of many human diseases, including cancer, and can be caused by a variety of factors. The diagnosis and management of CIN require a multidisciplinary approach that includes cytogenetic analysis, molecular diagnostics, and clinical evaluation. Understanding the causes and consequences of CIN is crucial for developing effective therapies and improving patient outcomes.

There are several types of chromosome fragility, including:

1. Fragile X syndrome: This is the most common form of chromosome fragility and is caused by an expansion of a CGG repeat in the FMR1 gene on the X chromosome. It is associated with intellectual disability, behavioral problems, and physical characteristics such as large ears and long faces.
2. Turner syndrome: This is a condition where one X chromosome is missing or partially deleted, leading to short stature, infertility, and other developmental delays.
3. Klinefelter syndrome: This is a condition where an individual has an extra X chromosome, leading to tall stature, small testes, and infertility.
4. Trisomy 13 and trisomy 18: These are conditions where there is an extra copy of chromosomes 13 or 18, leading to developmental delays and other physical and intellectual disabilities.
5. Chromosome breakage syndromes: These are conditions where there is a defect in the chromosome that increases the risk of breakage during cell division, leading to aneuploidy or structural changes. Examples include ataxia-telangiectasia and Nijmegen breakage syndrome.

Chromosome fragility can be diagnosed through a variety of methods, including karyotyping, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (aCGH). Treatment for chromosome fragility depends on the specific condition and may include medication, surgery, or other interventions.

The symptoms of chromosome duplication vary depending on the location and number of extra chromosomes present. Some common symptoms include:

* Delayed development and growth
* Intellectual disability
* Speech and language delays
* Physical abnormalities, such as heart defects or facial dysmorphism
* Increased risk of developing certain health problems, such as autism or epilepsy

Chromosome duplication can be diagnosed through a blood test or by analyzing cells from the body. Treatment is based on the specific symptoms and may include speech therapy, physical therapy, medication, or surgery.

Prognosis for individuals with chromosome duplication varies depending on the location and number of extra chromosomes present, as well as the presence of any other genetic conditions. Some individuals with chromosome duplication may have a good prognosis and lead normal lives, while others may experience significant health problems and developmental delays.

In some cases, chromosome duplication can be inherited from one or both parents, who may be carriers of the condition but do not exhibit any symptoms themselves. In other cases, chromosome duplication can occur spontaneously due to a mistake during cell division.

There is currently no cure for chromosome duplication, but early diagnosis and appropriate interventions can help manage symptoms and improve outcomes for affected individuals.

Polyploidy is a condition where an organism has more than two sets of chromosomes, which are the thread-like structures that carry genetic information. It can occur in both plants and animals, although it is relatively rare in most species. In humans, polyploidy is extremely rare and usually occurs as a result of errors during cell division or abnormal fertilization.

In medicine, polyploidy is often used to describe certain types of cancer, such as breast cancer or colon cancer, that have extra sets of chromosomes. This can lead to the development of more aggressive and difficult-to-treat tumors.

However, not all cases of polyploidy are cancerous. Some individuals with Down syndrome, for example, have an extra copy of chromosome 21, which is a non-cancerous form of polyploidy. Additionally, some people may be born with extra copies of certain genes or chromosomal regions due to errors during embryonic development, which can lead to various health problems but are not cancerous.

Overall, the term "polyploidy" in medicine is used to describe any condition where an organism has more than two sets of chromosomes, regardless of whether it is cancerous or non-cancerous.

Some examples of multiple abnormalities include:

1. Multiple chronic conditions: An individual may have multiple chronic conditions such as diabetes, hypertension, arthritis, and heart disease, which can affect their quality of life and increase their risk of complications.
2. Congenital anomalies: Some individuals may be born with multiple physical abnormalities or birth defects, such as heart defects, limb abnormalities, or facial deformities.
3. Mental health disorders: Individuals may experience multiple mental health disorders, such as depression, anxiety, and bipolar disorder, which can impact their cognitive functioning and daily life.
4. Neurological conditions: Some individuals may have multiple neurological conditions, such as epilepsy, Parkinson's disease, and stroke, which can affect their cognitive and physical functioning.
5. Genetic disorders: Individuals with genetic disorders, such as Down syndrome or Turner syndrome, may experience a range of physical and developmental abnormalities.

The term "multiple abnormalities" is often used in medical research and clinical practice to describe individuals who have complex health needs and require comprehensive care. It is important for healthcare providers to recognize and address the multiple needs of these individuals to improve their overall health outcomes.

Explanation: Genetic predisposition to disease is influenced by multiple factors, including the presence of inherited genetic mutations or variations, environmental factors, and lifestyle choices. The likelihood of developing a particular disease can be increased by inherited genetic mutations that affect the functioning of specific genes or biological pathways. For example, inherited mutations in the BRCA1 and BRCA2 genes increase the risk of developing breast and ovarian cancer.

The expression of genetic predisposition to disease can vary widely, and not all individuals with a genetic predisposition will develop the disease. Additionally, many factors can influence the likelihood of developing a particular disease, such as environmental exposures, lifestyle choices, and other health conditions.

Inheritance patterns: Genetic predisposition to disease can be inherited in an autosomal dominant, autosomal recessive, or multifactorial pattern, depending on the specific disease and the genetic mutations involved. Autosomal dominant inheritance means that a single copy of the mutated gene is enough to cause the disease, while autosomal recessive inheritance requires two copies of the mutated gene. Multifactorial inheritance involves multiple genes and environmental factors contributing to the development of the disease.

Examples of diseases with a known genetic predisposition:

1. Huntington's disease: An autosomal dominant disorder caused by an expansion of a CAG repeat in the Huntingtin gene, leading to progressive neurodegeneration and cognitive decline.
2. Cystic fibrosis: An autosomal recessive disorder caused by mutations in the CFTR gene, leading to respiratory and digestive problems.
3. BRCA1/2-related breast and ovarian cancer: An inherited increased risk of developing breast and ovarian cancer due to mutations in the BRCA1 or BRCA2 genes.
4. Sickle cell anemia: An autosomal recessive disorder caused by a point mutation in the HBB gene, leading to defective hemoglobin production and red blood cell sickling.
5. Type 1 diabetes: An autoimmune disease caused by a combination of genetic and environmental factors, including multiple genes in the HLA complex.

Understanding the genetic basis of disease can help with early detection, prevention, and treatment. For example, genetic testing can identify individuals who are at risk for certain diseases, allowing for earlier intervention and preventive measures. Additionally, understanding the genetic basis of a disease can inform the development of targeted therapies and personalized medicine."


Monosomy refers to a condition where an individual has only one copy of a particular chromosome, instead of the usual two copies present in every cell of the body. This can occur due to various genetic or environmental factors and can lead to developmental delays, intellectual disability, and physical abnormalities.

Other Defination:
Monosomy can also refer to the absence of a specific chromosome or part of a chromosome. For example, monosomy 21 is the condition where an individual has only one copy of chromosome 21, which is the chromosome responsible for Down syndrome. Similarly, monosomy 8p is the condition where there is a loss of a portion of chromosome 8p.

Synonyms:
Monosomy is also known as single chromosome deletion or single chromosome monosomy.

Antonyms:
Polysomy, which refers to the presence of extra copies of a particular chromosome, is the antonym of monosomy.

In Medical Terminology:
Monosomy is a genetic term that is used to describe a condition where there is only one copy of a particular chromosome present in an individual's cells, instead of the usual two copies. This can occur due to various factors such as errors during cell division or exposure to certain chemicals or viruses. Monosomy can lead to a range of developmental delays and physical abnormalities, depending on the location and extent of the missing chromosome material.

In Plain English:
Monosomy is a condition where a person has only one copy of a particular chromosome instead of two copies. This can cause developmental delays and physical abnormalities, and can be caused by genetic or environmental factors. It's important to note that monosomy can occur on any chromosome, but some specific types of monosomy are more common and well-known than others. For example, Down syndrome is a type of monosomy that occurs when there is an extra copy of chromosome 21.

There are several types of sex chromosome disorders, including:

1. Turner Syndrome: A condition that occurs in females who have only one X chromosome instead of two. This can lead to short stature, infertility, and other health problems.
2. Klinefelter Syndrome: A condition that occurs in males who have an extra X chromosome (XXY). This can lead to tall stature, breast enlargement, and infertility.
3. XXY Syndrome: A condition that occurs in individuals with two X chromosomes and one Y chromosome. This can lead to tall stature, breast enlargement, and fertility problems.
4. XYY Syndrome: A condition that occurs in individuals with an extra Y chromosome (XYY). This can lead to taller stature and fertility problems.
5. Mosaicism: A condition where there is a mixture of normal and abnormal cells in the body, often due to a genetic mutation that occurred during embryonic development.
6. Y chromosome variants: These are variations in the Y chromosome that can affect male fertility or increase the risk of certain health problems.
7. Uniparental disomy: A condition where an individual has two copies of one or more chromosomes, either due to a genetic mutation or because of a mistake during cell division.
8. Structural variations: These are changes in the structure of the sex chromosomes, such as deletions, duplications, or translocations, which can affect gene expression and increase the risk of certain health problems.

Sex chromosome disorders can be diagnosed through chromosomal analysis, which involves analyzing a person's cells to determine their sex chromosome makeup. Treatment for these disorders varies depending on the specific condition and may include hormone therapy, surgery, or other medical interventions.

Synonyms: BCR-ABL fusion gene, t(9;22)(q34;q11), p210 protein, bcr-abl fusion transcript, breakpoint cluster region (BCR) - Abelson tyrosine kinase (ABLE) fusion gene.

Word Origin: Named after the city of Philadelphia, where it was first described in 1960.

There are various causes of intellectual disability, including:

1. Genetic disorders, such as Down syndrome, Fragile X syndrome, and Turner syndrome.
2. Congenital conditions, such as microcephaly and hydrocephalus.
3. Brain injuries, such as traumatic brain injury or hypoxic-ischemic injury.
4. Infections, such as meningitis or encephalitis.
5. Nutritional deficiencies, such as iron deficiency or iodine deficiency.

Intellectual disability can result in a range of cognitive and functional impairments, including:

1. Delayed language development and difficulty with communication.
2. Difficulty with social interactions and adapting to new situations.
3. Limited problem-solving skills and difficulty with abstract thinking.
4. Slow learning and memory difficulties.
5. Difficulty with fine motor skills and coordination.

There is no cure for intellectual disability, but early identification and intervention can significantly improve outcomes. Treatment options may include:

1. Special education programs tailored to the individual's needs.
2. Behavioral therapies, such as applied behavior analysis (ABA) and positive behavior support (PBS).
3. Speech and language therapy.
4. Occupational therapy to improve daily living skills.
5. Medications to manage associated behaviors or symptoms.

It is essential to recognize that intellectual disability is a lifelong condition, but with appropriate support and resources, individuals with ID can lead fulfilling lives and reach their full potential.

Examples of syndromes include:

1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.

Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.

Down syndrome can be diagnosed before birth through prenatal testing, such as chorionic villus sampling or amniocentesis, or after birth through a blood test. The symptoms of Down syndrome can vary from person to person, but common physical features include:

* A flat face with a short neck and small ears
* A short stature
* A wide, short hands with short fingers
* A small head
* Almond-shaped eyes that are slanted upward
* A single crease in the palm of the hand

People with Down syndrome may also have cognitive delays and intellectual disability, as well as increased risk of certain medical conditions such as heart defects, gastrointestinal problems, and hearing and vision loss.

There is no cure for Down syndrome, but early intervention and proper medical care can greatly improve the quality of life for individuals with the condition. Treatment may include speech and language therapy, occupational therapy, physical therapy, and special education programs. With appropriate support and resources, people with Down syndrome can lead fulfilling and productive lives.

Types of Uniparental Disomy:

There are two types of UPD:

1. Uniparental disomy 22 (UPD(22): This type is caused by a deletion of one copy of chromosome 22, resulting in an individual having only one copy of the entire chromosome or a portion of it.
2. Uniparental disomy 15 (UPD(15): This type is caused by a deletion of one copy of chromosome 15, resulting in an individual having only one copy of the entire chromosome or a portion of it.

Causes and Symptoms:

The causes of UPD are not well understood, but it is believed that it may be caused by errors during cell division or the fusion of cells. Symptoms of UPD can vary depending on the location and size of the deleted chromosome material, but they may include:

1. Developmental delays
2. Intellectual disability
3. Speech and language difficulties
4. Behavioral problems
5. Dysmorphic features (physical abnormalities)
6. Congenital anomalies (birth defects)
7. Increased risk of infections and autoimmune disorders
8. Short stature
9. Skeletal abnormalities
10. Cardiac defects

Diagnosis and Treatment:

The diagnosis of UPD is based on a combination of clinical features, chromosomal analysis, and molecular genetic testing. Treatment for UPD is focused on managing the symptoms and addressing any underlying medical issues. This may include:

1. Speech and language therapy
2. Occupational therapy
3. Physical therapy
4. Medications to manage behavioral problems or seizures
5. Surgery to correct physical abnormalities or congenital anomalies
6. Infection prophylaxis (to prevent infections)
7. Immunoglobulin replacement therapy (to boost the immune system)
8. Antibiotics (to treat infections)
9. Cardiac management (to address any heart defects)

Prenatal Diagnosis:

UPD can be diagnosed prenatally using chorionic villus sampling or amniocentesis, which involve analyzing a sample of cells from the placenta or amniotic fluid. This allows parents to prepare for the possibility of a child with UPD and to make informed decisions about their pregnancy.

Counseling and Psychosocial Support:

UPD can have significant psychosocial implications for families, including anxiety, depression, and social isolation. It is essential to provide counseling and psychosocial support to parents and families to help them cope with the diagnosis and manage the challenges of raising a child with UPD.

Genetic Counseling:

UPD can be inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene is enough to cause the condition. Genetic counseling can help families understand the risk of recurrence and make informed decisions about their reproductive options.

Rehabilitation and Therapy:

Children with UPD may require ongoing therapy and rehabilitation to address physical, cognitive, and behavioral challenges. This may include occupational therapy, speech therapy, and physical therapy.

Parental Support Groups:

Support groups for parents of children with UPD can provide a valuable source of information, emotional support, and practical advice. These groups can help families connect with others who are facing similar challenges and can help them feel less isolated and more empowered to navigate the complexities of raising a child with UPD.

In conclusion, the diagnosis of UPD can have significant implications for individuals and families. By understanding the causes, symptoms, diagnosis, treatment, and management options, healthcare providers can provide comprehensive care and support to those affected by this condition. Additionally, counseling, psychosocial support, genetic counseling, rehabilitation, and therapy can all play important roles in helping families navigate the challenges of UPD and improving the quality of life for individuals with this condition.

The causes of SCSDs are not fully understood, but they are thought to be related to genetic mutations or variations in the sex chromosomes. The diagnosis of an SCSD typically involves a combination of clinical evaluation, laboratory tests, and imaging studies. Treatment for these disorders can range from hormone replacement therapy to surgery and other forms of gender-affirming care.

The term "sex chromosome disorders of sex development" is used to describe a group of conditions that affect the development of reproductive organs and secondary sex characteristics in individuals with variations in their sex chromosomes. These conditions are also known as intersex conditions or DSDs (disorders of sex development).

The term "intersex" refers to individuals who are born with reproductive or sexual anatomy that doesn't fit typical male or female classifications. This can include a variety of physical characteristics, such as chromosomes, gonads, hormones, or genitals that are not typical for either males or females. The term "intersex" is often used to describe individuals who have variations in their sex chromosomes, hormone levels, or genitalia that do not fit typical male/female classifications.

Intersex traits can be diagnosed at birth or later in life, and the diagnosis can be made based on a variety of factors, including clinical evaluation, laboratory tests, and imaging studies. The treatment for intersex conditions depends on the specific condition and the individual needs of the patient. Some intersex conditions may not require any treatment, while others may require hormone replacement therapy or surgery.

In summary, sex chromosome disorders of sex development (SCSDs) and intersex conditions are terms used to describe individuals who have variations in their sex chromosomes, hormone levels, or genitalia that do not fit typical male/female classifications. These conditions can be diagnosed at birth or later in life and may require treatment based on the specific condition and individual needs of the patient.

Turner syndrome occurs in approximately 1 in every 2,500 to 3,000 live female births and is more common in girls born to older mothers. The symptoms of Turner syndrome can vary widely and may include:

* Short stature and delayed growth and development
* Infertility or lack of menstruation (amenorrhea)
* Heart defects, such as a narrowed aorta or a hole in the heart
* Eye problems, such as cataracts, glaucoma, or crossed eyes
* Hearing loss or deafness
* Bone and joint problems, such as scoliosis or clubfoot
* Cognitive impairments, including learning disabilities and memory problems
* Delayed speech and language development
* Poor immune function, leading to recurrent infections

Turner syndrome is usually diagnosed at birth or during childhood, based on physical characteristics such as short stature, low muscle tone, or heart defects. Chromosomal analysis can also confirm the diagnosis.

There is no cure for Turner syndrome, but treatment can help manage the symptoms and improve quality of life. Hormone replacement therapy may be used to stimulate growth and development in children, while adults with the condition may require ongoing hormone therapy to maintain bone density and prevent osteoporosis. Surgery may be necessary to correct heart defects or other physical abnormalities. Speech and language therapy can help improve communication skills, and cognitive training may be beneficial for learning disabilities.

The long-term outlook for individuals with Turner syndrome varies depending on the severity of the condition and the presence of any additional health problems. With proper medical care and support, many women with Turner syndrome can lead fulfilling lives, but they may face unique challenges related to fertility, heart health, and other issues.

Male infertility can be caused by a variety of factors, including:

1. Low sperm count or poor sperm quality: This is one of the most common causes of male infertility. Sperm count is typically considered low if less than 15 million sperm are present in a sample of semen. Additionally, sperm must be of good quality to fertilize an egg successfully.
2. Varicocele: This is a swelling of the veins in the scrotum that can affect sperm production and quality.
3. Erectile dysfunction: Difficulty achieving or maintaining an erection can make it difficult to conceive.
4. Premature ejaculation: This can make it difficult for the sperm to reach the egg during sexual intercourse.
5. Blockages or obstructions: Blockages in the reproductive tract, such as a blockage of the epididymis or vas deferens, can prevent sperm from leaving the body during ejaculation.
6. Retrograde ejaculation: This is a condition in which semen is released into the bladder instead of being expelled through the penis during ejaculation.
7. Hormonal imbalances: Imbalances in hormones such as testosterone and inhibin can affect sperm production and quality.
8. Medical conditions: Certain medical conditions, such as diabetes, hypogonadism, and hyperthyroidism, can affect fertility.
9. Lifestyle factors: Factors such as smoking, excessive alcohol consumption, and stress can all impact fertility.
10. Age: Male fertility declines with age, especially after the age of 40.

There are several treatment options for male infertility, including:

1. Medications to improve sperm count and quality
2. Surgery to repair blockages or obstructions in the reproductive tract
3. Artificial insemination (IUI) or in vitro fertilization (IVF) to increase the chances of conception
4. Donor sperm
5. Assisted reproductive technology (ART) such as ICSI (intracytoplasmic sperm injection)
6. Hormone therapy to improve fertility
7. Lifestyle changes such as quitting smoking and alcohol, losing weight, and reducing stress.

It's important to note that male infertility is a common condition and there are many treatment options available. If you're experiencing difficulty conceiving, it's important to speak with a healthcare provider to determine the cause of infertility and discuss potential treatment options.

KS occurs in approximately 1 in every 500-1000 male births and is usually diagnosed at puberty or later in life when symptoms become apparent. The extra X chromosome can affect the development of the body, including physical characteristics such as taller stature, less muscle mass, and smaller testes. It can also cause infertility due to low levels of testosterone and other hormonal imbalances.

Symptoms of KS can include:

* Tall stature
* Inferior height compared to peers
* Less muscle mass
* Small testes
* Breast enlargement (gynecomastia)
* Reduced facial and body hair
* Infertility or low sperm count
* Learning disabilities
* Speech and language delays
* Social and emotional difficulties

KS can be diagnosed through chromosomal analysis, which involves examining the patient's cells to determine their sex chromosomes. Treatment for KS typically involves hormone replacement therapy (HRT) to address any hormonal imbalances and may include surgery or other interventions to address physical characteristics such as breasts or infertility.

It is important to note that KS is a spectrum disorder, meaning that the severity of symptoms can vary widely among individuals with the condition. Some men with KS may have mild symptoms and lead relatively normal lives, while others may experience more significant challenges. With appropriate medical care and support, many individuals with KS are able to lead fulfilling lives.

PWS is characterized by a range of physical, cognitive, and behavioral symptoms, including:

1. Delayed growth and development: Individuals with PWS often have slowed growth before birth and may be born with low birth weight. They may also experience delayed puberty and short stature compared to their peers.
2. Intellectual disability: Many individuals with PWS have intellectual disability, which can range from mild to severe.
3. Behavioral problems: PWS is often associated with behavioral challenges, such as attention deficit hyperactivity disorder (ADHD), anxiety, and obsessive-compulsive disorder (OCD).
4. Feeding and eating difficulties: Individuals with PWS may have difficulty feeding and swallowing, which can lead to nutritional deficiencies and other health problems. They may also experience a condition called "hyperphagia," which is characterized by excessive hunger and overeating.
5. Sleep disturbances: PWS is often associated with sleep disturbances, such as insomnia and restlessness.
6. Short stature: Individuals with PWS tend to be shorter than their peers, with an average adult height of around 4 feet 10 inches (147 cm).
7. Body composition: PWS is often characterized by a high percentage of body fat, which can increase the risk of obesity and other health problems.
8. Hormonal imbalances: PWS can disrupt the balance of hormones in the body, leading to issues such as hypogonadism (low testosterone levels) and hypothyroidism (underactive thyroid).
9. Dental problems: Individuals with PWS are at increased risk of dental problems, including tooth decay and gum disease.
10. Vision and hearing problems: Some individuals with PWS may experience vision and hearing problems, such as nearsightedness, farsightedness, and hearing loss.

It's important to note that every individual with PWS is unique, and not all will experience all of these symptoms. Additionally, the severity of the disorder can vary widely from person to person. With proper medical care and management, however, many individuals with PWS can lead fulfilling and productive lives.

There are several types of genomic instability, including:

1. Chromosomal instability (CIN): This refers to changes in the number or structure of chromosomes, such as aneuploidy (having an abnormal number of chromosomes) or translocations (the movement of genetic material between chromosomes).
2. Point mutations: These are changes in a single base pair in the DNA sequence.
3. Insertions and deletions: These are changes in the number of base pairs in the DNA sequence, resulting in the insertion or deletion of one or more base pairs.
4. Genomic rearrangements: These are changes in the structure of the genome, such as chromosomal breaks and reunions, or the movement of genetic material between chromosomes.

Genomic instability can arise from a variety of sources, including environmental factors, errors during DNA replication and repair, and genetic mutations. It is often associated with cancer, as cancer cells have high levels of genomic instability, which can lead to the development of resistance to chemotherapy and radiation therapy.

Research into genomic instability has led to a greater understanding of the mechanisms underlying cancer and other diseases, and has also spurred the development of new therapeutic strategies, such as targeted therapies and immunotherapies.

In summary, genomic instability is a key feature of cancer cells and is associated with various diseases, including cancer, neurodegenerative disorders, and aging. It can arise from a variety of sources and is the subject of ongoing research in the field of molecular biology.

Definition: Isochromosomes are chromosomes that have the same banding pattern and the same number of genes, but differ in size due to variations in the amount of repetitive DNA sequences.

Example: In some cases of cancer, isochromosomes may be present as a result of a chromosomal abnormality. These abnormalities can lead to changes in the expression of genes and potentially contribute to the development and progression of cancer.

Synonyms: Isochromosomes are also known as isochromosomi or isochromosomal aberrations.

Antonyms: There are no direct antonyms for isochromosomes, but related terms that refer to abnormalities in chromosome structure or number include aneuploidy, translocations, and deletions.

There are several possible causes of oligospermia, including:

* Hormonal imbalances
* Varicocele (a swelling of the veins in the scrotum)
* Infections such as epididymitis or prostatitis
* Blockages such as a vasectomy or epididymal obstruction
* Certain medications such as anabolic steroids and chemotherapy drugs
* Genetic disorders
* Environmental factors such as exposure to toxins or radiation

Symptoms of oligospermia may include:

* Difficulty getting an erection
* Premature ejaculation
* Low sex drive
* Painful ejaculation

Diagnosis of oligospermia typically involves a physical exam, medical history, and semen analysis. Treatment will depend on the underlying cause of the condition, but may include medications to improve sperm count and quality, surgery to correct blockages or varicoceles, or assisted reproductive technologies such as in vitro fertilization (IVF).

It's important to note that a low sperm count does not necessarily mean a man is infertile. However, it can make it more difficult to conceive a child. With appropriate treatment and lifestyle changes, some men with oligospermia may be able to improve their fertility and have children.

1. Twin-to-twin transmission: This refers to the transmission of infectious agents or other conditions from one twin to the other in utero, during delivery, or after birth. Examples include rubella, herpes simplex virus, and group B streptococcus.
2. Monozygotic (identical) twins: These twins develop from a single fertilized egg and share an identical genetic makeup. They are at higher risk of developing certain diseases, such as immune system disorders and some types of cancer, because of their shared genetics.
3. Dizygotic (fraternal) twins: These twins develop from two separate eggs and have a similar but not identical genetic makeup. They are at higher risk of developing diseases that affect multiple family members, such as heart disease and type 2 diabetes.
4. Twin-specific diseases: These are conditions that affect only twins or are more common in twins than in the general population. Examples include Klinefelter syndrome, which affects males with an extra X chromosome, and Turner syndrome, which affects females with a missing X chromosome.
5. Twin-related complications: These are conditions that occur during pregnancy or delivery and are more common in twins than in singletons. Examples include preterm labor, growth restriction, and twin-to-twin transfusion syndrome.
6. Genetic disorders: Twins can inherit genetic mutations from their parents, which can increase their risk of developing certain diseases. Examples include sickle cell anemia, cystic fibrosis, and Huntington's disease.
7. Environmental exposures: Twins may be exposed to similar environmental factors during fetal development, which can increase their risk of developing certain health problems. Examples include maternal smoking during pregnancy, exposure to lead or other toxins, and maternal infections during pregnancy.
8. Social and cultural factors: Twins may face unique social and cultural challenges, such as discrimination, stigma, and social isolation, which can affect their mental health and well-being.

It's important to note that while twins may be at increased risk for certain health problems, many twins are born healthy and lead normal, healthy lives. Regular prenatal care, proper nutrition, and a healthy lifestyle can help reduce the risks of complications during pregnancy and after delivery. Additionally, advances in medical technology and research have improved the detection and treatment of many twin-related health issues.

The presence of chromosome-defective micronuclei in cells can be an indication of genetic damage and may be used as a diagnostic marker for certain diseases or conditions, such as cancer or exposure to toxic substances. The frequency and distribution of these structures within a cell population can also provide information about the type and severity of genetic damage present.

In contrast to other types of micronuclei, which are typically smaller and less complex, chromosome-defective micronuclei are larger and more irregular in shape, and may contain fragmented or abnormal chromatin material. They can also be distinguished from other types of micronuclei by their specific staining properties and the presence of certain structural features, such as the presence of nucleoli or the absence of a membrane boundary.

Overall, the study of chromosome-defective micronuclei is an important tool for understanding the mechanisms of genetic damage and disease, and may have practical applications in fields such as cancer diagnosis and environmental health assessment.

* Genetic mutations or chromosomal abnormalities
* Infections during pregnancy, such as rubella or toxoplasmosis
* Exposure to certain medications or chemicals during pregnancy
* Maternal malnutrition or poor nutrition during pregnancy
* Certain medical conditions, such as hypothyroidism or anemia.

Microcephaly can be diagnosed by measuring the baby's head circumference and comparing it to established norms for their age and gender. Other signs of microcephaly may include:

* A small, misshapen head
* Small eyes and ears
* Developmental delays or intellectual disability
* Seizures or other neurological problems
* Difficulty feeding or sucking

There is no cure for microcephaly, but early diagnosis and intervention can help manage the associated symptoms and improve quality of life. Treatment may include:

* Monitoring growth and development
* Physical therapy to improve muscle tone and coordination
* Occupational therapy to develop fine motor skills and coordination
* Speech therapy to improve communication skills
* Medication to control seizures or other neurological problems.

In some cases, microcephaly may be associated with other medical conditions, such as intellectual disability, autism, or vision or hearing loss. It is important for individuals with microcephaly to receive regular monitoring and care from a team of healthcare professionals to address any related medical issues.

Tetraploidy can be caused by various factors such as:

1. Polyploidy: This is a condition where an individual has more than two sets of chromosomes, including tetraploidy.
2. Chromosomal abnormalities: Such as aneuploidy, where there is an extra or missing copy of a specific chromosome.
3. Genetic disorders: Such as Down syndrome, which is caused by an extra copy of chromosome 21.
4. Environmental factors: Exposure to certain chemicals or radiation can increase the risk of tetraploidy.

Symptoms of tetraploidy can vary depending on the severity of the condition and may include:

1. Growth delays: Children with tetraploidy may experience slowed growth and development.
2. Intellectual disability: Some individuals with tetraploidy may have cognitive impairments and learning difficulties.
3. Physical abnormalities: Tetraploidy can result in a variety of physical characteristics, such as short stature, thinning hair, and distinctive facial features.
4. Increased risk of health problems: Individuals with tetraploidy may be more susceptible to certain health issues, such as heart defects, hearing loss, and vision problems.

Diagnosis of tetraploidy is typically made through chromosomal analysis, which can be performed on a blood or tissue sample. Treatment for tetraploidy is not always necessary, but may include:

1. Monitoring growth and development: Regular check-ups with a healthcare provider can help track the child's growth and development.
2. Speech and language therapy: Children with tetraploidy may benefit from speech and language therapy to address any communication difficulties.
3. Occupational therapy: Individuals with tetraploidy may need occupational therapy to help them develop skills and abilities.
4. Medication: In some cases, medication may be prescribed to manage associated health problems, such as heart defects or seizures.

It is important to note that every individual with tetraploidy is unique and may have a different experience and outcome. With appropriate medical care and support, many individuals with tetraploidy can lead fulfilling lives.

Explanation: Neoplastic cell transformation is a complex process that involves multiple steps and can occur as a result of genetic mutations, environmental factors, or a combination of both. The process typically begins with a series of subtle changes in the DNA of individual cells, which can lead to the loss of normal cellular functions and the acquisition of abnormal growth and reproduction patterns.

Over time, these transformed cells can accumulate further mutations that allow them to survive and proliferate despite adverse conditions. As the transformed cells continue to divide and grow, they can eventually form a tumor, which is a mass of abnormal cells that can invade and damage surrounding tissues.

In some cases, cancer cells can also break away from the primary tumor and travel through the bloodstream or lymphatic system to other parts of the body, where they can establish new tumors. This process, known as metastasis, is a major cause of death in many types of cancer.

It's worth noting that not all transformed cells will become cancerous. Some forms of cellular transformation, such as those that occur during embryonic development or tissue regeneration, are normal and necessary for the proper functioning of the body. However, when these transformations occur in adult tissues, they can be a sign of cancer.

See also: Cancer, Tumor

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The main symptoms of AS include:

1. Developmental delay: Children with AS typically experience delays in reaching milestones such as sitting, standing, and walking.
2. Intellectual disability: Individuals with AS often have low IQ scores and may have difficulty with language skills, memory, and problem-solving.
3. Happy demeanor: People with AS are known to have a happy, outgoing, and sociable personality.
4. Speech and language difficulties: Individuals with AS may have trouble articulating words and sentences.
5. Motor skills problems: They may experience difficulty with coordination, balance, and fine motor skills.
6. Seizures: About 10% of individuals with AS experience seizures, usually in the form of atonic seizures (also known as drop attacks).
7. Sleep disturbances: Many people with AS have sleep problems, including insomnia and restlessness.
8. Behavioral issues: Some individuals with AS may exhibit behavioral challenges such as hyperactivity, impulsivity, and anxiety.
9. Vision problems: Some people with AS may experience vision difficulties, including strabismus (crossed eyes) and nystagmus (involuntary eye movements).
10. Feeding difficulties: Some individuals with AS may have trouble feeding themselves or experiencing gastrointestinal issues.

There is no cure for Angelman Syndrome, but various therapies can help manage the symptoms and improve the quality of life for individuals affected by the disorder. These may include physical therapy, occupational therapy, speech therapy, and behavioral interventions. Medications such as anticonvulsants and mood stabilizers may also be prescribed to manage seizures and other symptoms.

People with XYY karyotype may experience a range of physical and developmental symptoms, including:

* Delayed speech and language development
* Learning disabilities
* Behavioral problems such as ADHD
* Short stature
* Increased risk of infertility or low sperm count
* Other health problems such as heart defects or eye abnormalities

The XYY karyotype is usually diagnosed through chromosomal analysis, which can be performed on a blood sample or other tissue sample. The condition is relatively rare, occurring in less than 1% of the male population.

There is no specific treatment for XYY karyotype, but individuals with the condition may benefit from early intervention and special education services to address any developmental delays or learning disabilities. In some cases, hormone therapy or other medical treatments may be recommended to address related health issues.

The primary symptoms of DiGeorge syndrome include:

1. Cleft palate or other congenital facial abnormalities
2. Heart defects, such as Tetralogy of Fallot
3. Developmental delays and learning disabilities
4. Speech difficulties
5. Hearing loss
6. Vision problems
7. Immune system dysfunction
8. Thyroid gland abnormalities
9. Kidney and urinary tract defects
10. Increased risk of infections

DiGeorge syndrome is caused by a genetic mutation that occurs sporadically, meaning it is not inherited from either parent. The condition is usually diagnosed during infancy or early childhood, based on the presence of distinctive physical features and developmental delays. Treatment for DiGeorge syndrome typically involves managing the associated symptoms and developmental delays through a combination of medical interventions, therapies, and special education. With appropriate support and care, individuals with DiGeorge syndrome can lead fulfilling lives, although they may require ongoing medical attention throughout their lives.

Myeloid leukemia can be classified into several subtypes based on the type of cell involved and the degree of maturity of the abnormal cells. The most common types of myeloid leukemia include:

1. Acute Myeloid Leukemia (AML): This is the most aggressive form of myeloid leukemia, characterized by a rapid progression of immature cells that do not mature or differentiate into normal cells. AML can be further divided into several subtypes based on the presence of certain genetic mutations or chromosomal abnormalities.
2. Chronic Myeloid Leukemia (CML): This is a slower-growing form of myeloid leukemia, characterized by the presence of a genetic abnormality known as the Philadelphia chromosome. CML is typically treated with targeted therapies or bone marrow transplantation.
3. Myelodysplastic Syndrome (MDS): This is a group of disorders characterized by the impaired development of immature blood cells in the bone marrow. MDS can progress to AML if left untreated.
4. Chronic Myelomonocytic Leukemia (CMML): This is a rare form of myeloid leukemia that is characterized by the accumulation of immature monocytes in the blood and bone marrow. CMML can be treated with chemotherapy or bone marrow transplantation.

The symptoms of myeloid leukemia can vary depending on the subtype and severity of the disease. Common symptoms include fatigue, weakness, fever, night sweats, and weight loss. Diagnosis is typically made through a combination of physical examination, blood tests, and bone marrow biopsy. Treatment options for myeloid leukemia can include chemotherapy, targeted therapies, bone marrow transplantation, and supportive care to manage symptoms and prevent complications. The prognosis for myeloid leukemia varies depending on the subtype of the disease and the patient's overall health. With current treatments, many patients with myeloid leukemia can achieve long-term remission or even be cured.

Here are some key points to consider when discussing azoospermia:

1. Causes: Azoospermia can be caused by various factors, including blockages due to surgery, injury, or infection, hormonal imbalances, anatomical abnormalities like varicocele, and chromosomal abnormalities.
2. Diagnosis: Azoospermia is typically diagnosed through semen analysis, which involves examining a semen sample under a microscope to determine the presence of sperm cells. Other tests may also be performed to identify any underlying causes, such as hormone level testing and ultrasound imaging.
3. Treatment: Treatment for azoospermia depends on the underlying cause, but may include medications to address hormonal imbalances or surgery to correct anatomical abnormalities. Assisted reproductive technologies (ART) like IVF or ICSI can also be used to help achieve pregnancy.
4. Prognosis: The prognosis for azoospermia varies depending on the underlying cause and the effectiveness of treatment. In general, the earlier the condition is diagnosed and treated, the better the prognosis.
5. Impact on fertility: Azoospermia can significantly impact fertility, as the absence of sperm in the semen makes it difficult or impossible to achieve pregnancy through natural means. However, with the help of ART, many men with azoospermia can still achieve fatherhood.
6. Psychological impact: Azoospermia can have significant psychological and emotional impacts on men and their partners, particularly if they are trying to conceive. It is important to provide support and counseling to help cope with the challenges of this condition.
7. Prevention: There is no known prevention for azoospermia, as it is often caused by underlying genetic or hormonal factors. However, identifying and addressing any underlying causes early on can improve outcomes and increase the chances of achieving pregnancy.

The term "gonadal dysgenesis" is used to describe a wide spectrum of abnormalities that affect the development of the gonads, including:

1. Turner Syndrome: A rare genetic disorder caused by a missing or partially deleted X chromosome, which can result in short stature, infertility, and characteristic physical features such as a small head, ears, and hands.
2. Klinefelter Syndrome: A condition in which an individual has an extra X chromosome, leading to infertility, hypogonadism, and a range of physical characteristics such as breast enlargement and small testes.
3. Androgen Insensitivity Syndrome (AIS): A condition in which the body is unable to respond to androgens (male hormones), resulting in female physical characteristics despite the presence of XY chromosomes.
4. Persistent Mullerian Duct Syndrome (PMDS): A rare condition in which the müllerian ducts (the precursors of the uterus and fallopian tubes) do not properly develop, leading to a range of physical and reproductive abnormalities.
5. Congenital Adrenal Hyperplasia (CAH): An inherited disorder that affects the production of hormones by the adrenal glands, which can lead to ambiguous genitalia and other physical symptoms.

The exact cause of gonadal dysgenesis is not always known, but it can be due to genetic mutations, chromosomal abnormalities, or environmental factors. Diagnosis is typically made based on a combination of clinical features, hormone levels, and genetic testing. Treatment options vary depending on the specific condition and may include hormone therapy, surgery, and/or psychological support.

Congenital hand deformities are present at birth and can be caused by genetic mutations or environmental factors during fetal development. They can affect any part of the hand, including the fingers, thumb, or wrist. Some common congenital hand deformities include:

1. Clubhand: A deformity characterized by a shortened hand with the fingers and thumb all bent towards the palm.
2. Clinodactyly: A deformity characterized by a curved or bent finger.
3. Postaxial polydactyly: A deformity characterized by an extra digit on the little finger side of the hand.
4. Preaxial polydactyly: A deformity characterized by an extra digit on the thumb side of the hand.
5. Symbrachydactyly: A deformity characterized by a shortened or missing hand with no or only a few fingers.

The symptoms of congenital hand deformities can vary depending on the type and severity of the deformity. Some common symptoms include:

1. Limited range of motion in the affected hand.
2. Difficulty grasping or holding objects.
3. Pain or stiffness in the affected hand.
4. Abnormal finger or thumb position.
5. Aesthetic concerns.

The diagnosis of congenital hand deformities is usually made through a combination of physical examination, medical history, and imaging studies such as X-rays or ultrasound. Treatment options for congenital hand deformities can vary depending on the type and severity of the deformity and may include:

1. Surgery to correct the deformity.
2. Physical therapy to improve range of motion and strength.
3. Bracing or splinting to support the affected hand.
4. Orthotics or assistive devices to help with daily activities.
5. Medications to manage pain or inflammation.

It is important to seek medical attention if you suspect that your child may have a congenital hand deformity, as early diagnosis and treatment can improve outcomes and reduce the risk of complications.

Types of Craniofacial Abnormalities:

1. Cleft lip and palate: A congenital deformity that affects the upper jaw, nose, and mouth.
2. Premature fusion of skull bones: Can result in an abnormally shaped head or face.
3. Distraction osteogenesis: A condition where the bones fail to grow properly, leading to abnormal growth patterns.
4. Facial asymmetry: A condition where one side of the face is smaller or larger than the other.
5. Craniosynostosis: A condition where the skull bones fuse together too early, causing an abnormally shaped head.
6. Micrognathia: A condition where the lower jaw is smaller than normal, which can affect breathing and feeding.
7. Macroglossia: A condition where the tongue is larger than normal, which can cause difficulty swallowing and breathing.
8. Oculofacial dysostosis: A condition that affects the development of the eyes and face.
9. Treacher Collins syndrome: A rare genetic disorder that affects the development of the face, particularly the eyes, ears, and jaw.

Causes of Craniofacial Abnormalities:

1. Genetics: Many craniofacial abnormalities are inherited from one or both parents.
2. Environmental factors: Exposure to certain drugs, alcohol, or infections during pregnancy can increase the risk of craniofacial abnormalities.
3. Premature birth: Babies born prematurely are at a higher risk for craniofacial abnormalities.
4. Trauma: Head injuries or other traumatic events can cause craniofacial abnormalities.
5. Infections: Certain infections, such as meningitis or encephalitis, can cause craniofacial abnormalities.

Treatment of Craniofacial Abnormalities:

1. Surgery: Many craniofacial abnormalities can be treated with surgery to correct the underlying deformity.
2. Orthodontic treatment: Braces or other orthodontic devices can be used to align teeth and improve the appearance of the face.
3. Speech therapy: Certain craniofacial abnormalities, such as micrognathia, can affect speech development. Speech therapy can help improve communication skills.
4. Medication: In some cases, medication may be prescribed to manage symptoms associated with craniofacial abnormalities, such as pain or breathing difficulties.
5. Rehabilitation: Physical therapy and occupational therapy can help individuals with craniofacial abnormalities regain function and mobility after surgery or other treatments.

It is important to note that the treatment of craniofacial abnormalities varies depending on the specific condition and its severity. A healthcare professional, such as a pediatrician, orthodontist, or plastic surgeon, should be consulted for proper diagnosis and treatment.

It is also important to remember that craniofacial abnormalities can have a significant impact on an individual's quality of life, affecting their self-esteem, social relationships, and ability to function in daily activities. Therefore, it is essential to provide appropriate support and resources for individuals with these conditions, including psychological counseling, social support groups, and education about the condition.

The main features of BWS include:

1. Macroglossia (enlarged tongue): This is the most common feature of BWS, and it can cause difficulty with speaking and breathing.
2. Protruding ears: Children with BWS often have large ears that stick out from their head.
3. Omphalocele: This is a birth defect in which the intestines or other organs protrude through the navel.
4. Hydrocephalus: This is a build-up of fluid in the brain, which can cause increased pressure and enlargement of the head.
5. Polyhydramnios: This is a condition in which there is too much amniotic fluid surrounding the fetus during pregnancy.
6. Imperforate anus: This is a birth defect in which the anus is not properly formed, leading to difficulty with bowel movements.
7. Developmental delays: Children with BWS may experience delays in reaching developmental milestones, such as sitting, standing, and walking.
8. Intellectual disability: Some individuals with BWS may have mild to moderate intellectual disability.
9. Increased risk of cancer: Individuals with BWS have an increased risk of developing certain types of cancer, particularly Wilms tumor (a type of kidney cancer) and hepatoblastoma (a type of liver cancer).

There is no cure for Beckwith-Wiedemann Syndrome, but various treatments can be used to manage the associated symptoms and prevent complications. These may include surgery, physical therapy, speech therapy, and medication. With appropriate medical care and support, individuals with BWS can lead fulfilling lives.

There are different types of Breast Neoplasms such as:

1. Fibroadenomas: These are benign tumors that are made up of glandular and fibrous tissues. They are usually small and round, with a smooth surface, and can be moved easily under the skin.

2. Cysts: These are fluid-filled sacs that can develop in both breast tissue and milk ducts. They are usually benign and can disappear on their own or be drained surgically.

3. Ductal Carcinoma In Situ (DCIS): This is a precancerous condition where abnormal cells grow inside the milk ducts. If left untreated, it can progress to invasive breast cancer.

4. Invasive Ductal Carcinoma (IDC): This is the most common type of breast cancer and starts in the milk ducts but grows out of them and invades surrounding tissue.

5. Invasive Lobular Carcinoma (ILC): It originates in the milk-producing glands (lobules) and grows out of them, invading nearby tissue.

Breast Neoplasms can cause various symptoms such as a lump or thickening in the breast or underarm area, skin changes like redness or dimpling, change in size or shape of one or both breasts, discharge from the nipple, and changes in the texture or color of the skin.

Treatment options for Breast Neoplasms may include surgery such as lumpectomy, mastectomy, or breast-conserving surgery, radiation therapy which uses high-energy beams to kill cancer cells, chemotherapy using drugs to kill cancer cells, targeted therapy which uses drugs or other substances to identify and attack cancer cells while minimizing harm to normal cells, hormone therapy, immunotherapy, and clinical trials.

It is important to note that not all Breast Neoplasms are cancerous; some are benign (non-cancerous) tumors that do not spread or grow.

An abnormal karyotype can lead to a range of health problems, including developmental delays, intellectual disability, and an increased risk of certain diseases. Some common types of abnormal karyotypes include:

1. Trisomy: This occurs when there are three copies of a particular chromosome instead of the usual two. For example, trisomy 21 (also known as Down syndrome) is caused by an extra copy of chromosome 21.
2. Monosomy: This occurs when there is only one copy of a particular chromosome instead of the usual two.
3. Structural abnormalities: These occur when there are changes in the structure of the chromosomes, such as deletions, duplications, or translocations.
4. Mosaicism: This occurs when there is a mixture of normal and abnormal cells in the body, with the abnormal cells having an abnormal karyotype.

An abnormal karyotype can be diagnosed through a blood test or a biopsy, and treatment options will depend on the specific type of chromosomal abnormality and the severity of the symptoms. In some cases, the only option may be to manage the symptoms with medication or other supportive therapies. In other cases, surgery or other more invasive treatments may be necessary.

It is important for individuals with an abnormal karyotype to receive regular medical care and monitoring to ensure that any potential health problems are identified and addressed promptly. With appropriate treatment and support, many individuals with chromosomal abnormalities can lead fulfilling lives.

Wilms tumor accounts for about 5% of all childhood kidney cancers and usually affects only one kidney. The cancerous cells in the kidney are called blastema cells, which are immature cells that have not yet developed into normal kidney tissue.

The symptoms of Wilms tumor can vary depending on the size and location of the tumor, but they may include:

* Abdominal pain or swelling
* Blood in the urine
* Fever
* Vomiting
* Weight loss
* Loss of appetite

Wilms tumor is diagnosed through a combination of imaging tests such as ultrasound, CT scans, and MRI scans, and a biopsy to confirm the presence of cancer cells.

Treatment for Wilms tumor typically involves a combination of surgery, chemotherapy, and radiation therapy. The specific treatment plan will depend on the stage and location of the tumor, as well as the age and overall health of the child. In some cases, the affected kidney may need to be removed if the cancer is not completely removable by surgery or if it has spread to other parts of the body.

The prognosis for Wilms tumor has improved significantly over the past few decades due to advances in treatment and early detection. According to the American Cancer Society, the 5-year survival rate for children with Wilms tumor is about 90% if the cancer is diagnosed before it has spread to other parts of the body. However, the cancer can recur in some cases, especially if it has spread to other parts of the body at the time of initial diagnosis.

Overall, while Wilms tumor is a serious and potentially life-threatening condition, with prompt and appropriate treatment, many children with this disease can achieve long-term survival and a good quality of life.

Symptoms of Kidney Neoplasms can include blood in the urine, pain in the flank or abdomen, weight loss, fever, and fatigue. Diagnosis is made through a combination of physical examination, imaging studies such as CT scans or ultrasound, and tissue biopsy. Treatment options vary depending on the type and stage of the neoplasm, but may include surgery, ablation therapy, targeted therapy, or chemotherapy.

It is important for individuals with a history of Kidney Neoplasms to follow up with their healthcare provider regularly for monitoring and check-ups to ensure early detection of any recurrences or new tumors.

Neoplasm refers to an abnormal growth of cells that can be benign (non-cancerous) or malignant (cancerous). Neoplasms can occur in any part of the body and can affect various organs and tissues. The term "neoplasm" is often used interchangeably with "tumor," but while all tumors are neoplasms, not all neoplasms are tumors.

Types of Neoplasms

There are many different types of neoplasms, including:

1. Carcinomas: These are malignant tumors that arise in the epithelial cells lining organs and glands. Examples include breast cancer, lung cancer, and colon cancer.
2. Sarcomas: These are malignant tumors that arise in connective tissue, such as bone, cartilage, and fat. Examples include osteosarcoma (bone cancer) and soft tissue sarcoma.
3. Lymphomas: These are cancers of the immune system, specifically affecting the lymph nodes and other lymphoid tissues. Examples include Hodgkin lymphoma and non-Hodgkin lymphoma.
4. Leukemias: These are cancers of the blood and bone marrow that affect the white blood cells. Examples include acute myeloid leukemia (AML) and chronic lymphocytic leukemia (CLL).
5. Melanomas: These are malignant tumors that arise in the pigment-producing cells called melanocytes. Examples include skin melanoma and eye melanoma.

Causes and Risk Factors of Neoplasms

The exact causes of neoplasms are not fully understood, but there are several known risk factors that can increase the likelihood of developing a neoplasm. These include:

1. Genetic predisposition: Some people may be born with genetic mutations that increase their risk of developing certain types of neoplasms.
2. Environmental factors: Exposure to certain environmental toxins, such as radiation and certain chemicals, can increase the risk of developing a neoplasm.
3. Infection: Some neoplasms are caused by viruses or bacteria. For example, human papillomavirus (HPV) is a common cause of cervical cancer.
4. Lifestyle factors: Factors such as smoking, excessive alcohol consumption, and a poor diet can increase the risk of developing certain types of neoplasms.
5. Family history: A person's risk of developing a neoplasm may be higher if they have a family history of the condition.

Signs and Symptoms of Neoplasms

The signs and symptoms of neoplasms can vary depending on the type of cancer and where it is located in the body. Some common signs and symptoms include:

1. Unusual lumps or swelling
2. Pain
3. Fatigue
4. Weight loss
5. Change in bowel or bladder habits
6. Unexplained bleeding
7. Coughing up blood
8. Hoarseness or a persistent cough
9. Changes in appetite or digestion
10. Skin changes, such as a new mole or a change in the size or color of an existing mole.

Diagnosis and Treatment of Neoplasms

The diagnosis of a neoplasm usually involves a combination of physical examination, imaging tests (such as X-rays, CT scans, or MRI scans), and biopsy. A biopsy involves removing a small sample of tissue from the suspected tumor and examining it under a microscope for cancer cells.

The treatment of neoplasms depends on the type, size, location, and stage of the cancer, as well as the patient's overall health. Some common treatments include:

1. Surgery: Removing the tumor and surrounding tissue can be an effective way to treat many types of cancer.
2. Chemotherapy: Using drugs to kill cancer cells can be effective for some types of cancer, especially if the cancer has spread to other parts of the body.
3. Radiation therapy: Using high-energy radiation to kill cancer cells can be effective for some types of cancer, especially if the cancer is located in a specific area of the body.
4. Immunotherapy: Boosting the body's immune system to fight cancer can be an effective treatment for some types of cancer.
5. Targeted therapy: Using drugs or other substances to target specific molecules on cancer cells can be an effective treatment for some types of cancer.

Prevention of Neoplasms

While it is not always possible to prevent neoplasms, there are several steps that can reduce the risk of developing cancer. These include:

1. Avoiding exposure to known carcinogens (such as tobacco smoke and radiation)
2. Maintaining a healthy diet and lifestyle
3. Getting regular exercise
4. Not smoking or using tobacco products
5. Limiting alcohol consumption
6. Getting vaccinated against certain viruses that are associated with cancer (such as human papillomavirus, or HPV)
7. Participating in screening programs for early detection of cancer (such as mammograms for breast cancer and colonoscopies for colon cancer)
8. Avoiding excessive exposure to sunlight and using protective measures such as sunscreen and hats to prevent skin cancer.

It's important to note that not all cancers can be prevented, and some may be caused by factors that are not yet understood or cannot be controlled. However, by taking these steps, individuals can reduce their risk of developing cancer and improve their overall health and well-being.

The BCR-ABL gene is a fusion gene that is present in the majority of cases of CML. It is created by the translocation of two genes, called BCR and ABL, which leads to the production of a constitutively active tyrosine kinase protein that promotes the growth and proliferation of abnormal white blood cells.

There are three main phases of CML, each with distinct clinical and laboratory features:

1. Chronic phase: This is the earliest phase of CML, where patients may be asymptomatic or have mild symptoms such as fatigue, night sweats, and splenomegaly (enlargement of the spleen). The peripheral blood count typically shows a high number of blasts in the blood, but the bone marrow is still functional.
2. Accelerated phase: In this phase, the disease progresses to a higher number of blasts in the blood and bone marrow, with evidence of more aggressive disease. Patients may experience symptoms such as fever, weight loss, and pain in the joints or abdomen.
3. Blast phase: This is the most advanced phase of CML, where there is a high number of blasts in the blood and bone marrow, with significant loss of function of the bone marrow. Patients are often symptomatic and may have evidence of spread of the disease to other organs, such as the liver or spleen.

Treatment for CML typically involves targeted therapy with drugs that inhibit the activity of the BCR-ABL protein, such as imatinib (Gleevec), dasatinib (Sprycel), or nilotinib (Tasigna). These drugs can slow or stop the progression of the disease, and may also produce a complete cytogenetic response, which is defined as the absence of all Ph+ metaphases in the bone marrow. However, these drugs are not curative and may have significant side effects. Allogenic hematopoietic stem cell transplantation (HSCT) is also a potential treatment option for CML, but it carries significant risks and is usually reserved for patients who are in the blast phase of the disease or have failed other treatments.

In summary, the clinical course of CML can be divided into three phases based on the number of blasts in the blood and bone marrow, and treatment options vary depending on the phase of the disease. It is important for patients with CML to receive regular monitoring and follow-up care to assess their response to treatment and detect any signs of disease progression.

There are several different types of leukemia, including:

1. Acute Lymphoblastic Leukemia (ALL): This is the most common type of leukemia in children, but it can also occur in adults. It is characterized by an overproduction of immature white blood cells called lymphoblasts.
2. Acute Myeloid Leukemia (AML): This type of leukemia affects the bone marrow's ability to produce red blood cells, platelets, and other white blood cells. It can occur at any age but is most common in adults.
3. Chronic Lymphocytic Leukemia (CLL): This type of leukemia affects older adults and is characterized by the slow growth of abnormal white blood cells called lymphocytes.
4. Chronic Myeloid Leukemia (CML): This type of leukemia is caused by a genetic mutation in a gene called BCR-ABL. It can occur at any age but is most common in adults.
5. Hairy Cell Leukemia: This is a rare type of leukemia that affects older adults and is characterized by the presence of abnormal white blood cells called hairy cells.
6. Myelodysplastic Syndrome (MDS): This is a group of disorders that occur when the bone marrow is unable to produce healthy blood cells. It can lead to leukemia if left untreated.

Treatment for leukemia depends on the type and severity of the disease, but may include chemotherapy, radiation therapy, targeted therapy, or stem cell transplantation.

Some common types of growth disorders include:

1. Growth hormone deficiency (GHD): A condition in which the body does not produce enough growth hormone, leading to short stature and slow growth.
2. Turner syndrome: A genetic disorder that affects females, causing short stature, incomplete sexual development, and other health problems.
3. Prader-Willi syndrome: A rare genetic disorder that causes excessive hunger, obesity, and other physical and behavioral abnormalities.
4. Chronic kidney disease (CKD): A condition in which the kidneys gradually lose function over time, leading to growth retardation and other health problems.
5. Thalassemia: A genetic disorder that affects the production of hemoglobin, leading to anemia, fatigue, and other health problems.
6. Hypothyroidism: A condition in which the thyroid gland does not produce enough thyroid hormones, leading to slow growth and other health problems.
7. Cushing's syndrome: A rare hormonal disorder that can cause rapid growth and obesity.
8. Marfan syndrome: A genetic disorder that affects the body's connective tissue, causing tall stature, long limbs, and other physical abnormalities.
9. Noonan syndrome: A genetic disorder that affects the development of the heart, lungs, and other organs, leading to short stature and other health problems.
10. Williams syndrome: A rare genetic disorder that causes growth delays, cardiovascular problems, and other health issues.

Growth disorders can be diagnosed through a combination of physical examination, medical history, and laboratory tests such as hormone level assessments or genetic testing. Treatment depends on the specific condition and may include medication, hormone therapy, surgery, or other interventions. Early diagnosis and treatment can help manage symptoms and improve quality of life for individuals with growth disorders.

AML is a fast-growing and aggressive form of leukemia that can spread to other parts of the body through the bloodstream. It is most commonly seen in adults over the age of 60, but it can also occur in children.

There are several subtypes of AML, including:

1. Acute promyelocytic leukemia (APL): This is a subtype of AML that is characterized by the presence of a specific genetic abnormality called the PML-RARA fusion gene. It is usually responsive to treatment with chemotherapy and has a good prognosis.
2. Acute myeloid leukemia, not otherwise specified (NOS): This is the most common subtype of AML and does not have any specific genetic abnormalities. It can be more difficult to treat and has a poorer prognosis than other subtypes.
3. Chronic myelomonocytic leukemia (CMML): This is a subtype of AML that is characterized by the presence of too many immature white blood cells called monocytes in the blood and bone marrow. It can progress slowly over time and may require ongoing treatment.
4. Juvenile myeloid leukemia (JMML): This is a rare subtype of AML that occurs in children under the age of 18. It is characterized by the presence of too many immature white blood cells called blasts in the blood and bone marrow.

The symptoms of AML can vary depending on the subtype and the severity of the disease, but they may include:

* Fatigue
* Weakness
* Shortness of breath
* Pale skin
* Easy bruising or bleeding
* Swollen lymph nodes, liver, or spleen
* Bone pain
* Headache
* Confusion or seizures

AML is diagnosed through a combination of physical examination, medical history, and diagnostic tests such as:

1. Complete blood count (CBC): This test measures the number and types of cells in the blood, including red blood cells, white blood cells, and platelets.
2. Bone marrow biopsy: This test involves removing a small sample of bone marrow tissue from the hipbone or breastbone to examine under a microscope for signs of leukemia cells.
3. Genetic testing: This test can help identify specific genetic abnormalities that are associated with AML.
4. Immunophenotyping: This test uses antibodies to identify the surface proteins on leukemia cells, which can help diagnose the subtype of AML.
5. Cytogenetics: This test involves staining the bone marrow cells with dyes to look for specific changes in the chromosomes that are associated with AML.

Treatment for AML typically involves a combination of chemotherapy, targeted therapy, and in some cases, bone marrow transplantation. The specific treatment plan will depend on the subtype of AML, the patient's age and overall health, and other factors. Some common treatments for AML include:

1. Chemotherapy: This involves using drugs to kill cancer cells. The most commonly used chemotherapy drugs for AML are cytarabine (Ara-C) and anthracyclines such as daunorubicin (DaunoXome) and idarubicin (Idamycin).
2. Targeted therapy: This involves using drugs that specifically target the genetic abnormalities that are causing the cancer. Examples of targeted therapies used for AML include midostaurin (Rydapt) and gilteritinib (Xospata).
3. Bone marrow transplantation: This involves replacing the diseased bone marrow with healthy bone marrow from a donor. This is typically done after high-dose chemotherapy to destroy the cancer cells.
4. Supportive care: This includes treatments to manage symptoms and side effects of the disease and its treatment, such as anemia, infection, and bleeding. Examples of supportive care for AML include blood transfusions, antibiotics, and platelet transfusions.
5. Clinical trials: These are research studies that involve testing new treatments for AML. Participating in a clinical trial may give patients access to innovative therapies that are not yet widely available.

It's important to note that the treatment plan for AML is highly individualized, and the specific treatments used will depend on the patient's age, overall health, and other factors. Patients should work closely with their healthcare team to determine the best course of treatment for their specific needs.

There are many different types of congenital foot deformities, including:

1. Clubfoot (also known as talipes equinovarus): This is a condition in which the foot is twisted inward and downward, so that the heel is next to the ankle bone and the toes are pointing upwards.
2. Cavus foot (also known as high arch foot): This is a condition in which the arch of the foot is raised and rigid, making it difficult to walk or stand.
3. Flatfoot (also known as fallen arch foot): This is a condition in which the arch of the foot is low or nonexistent, causing the foot to appear flat.
4. Metatarsus adductus: This is a condition in which the forefoot is turned inward so that the toes are pointing towards the other foot.
5. Cleft foot: This is a rare condition in which the foot is misshapen and has a cleft or divide in the soft tissue.
6. Polydactyly (extra digits): This is a condition in which there are extra toes or fingers present.
7. Posterior tibial dysfunction: This is a condition in which the tendon that supports the arch of the foot is weakened or injured, leading to a flatfoot deformity.
8. Hereditary conditions: Some congenital foot deformities can be inherited from parents or grandparents.
9. Genetic syndromes: Certain genetic syndromes, such as Down syndrome, can increase the risk of developing congenital foot deformities.
10. Environmental factors: Exposure to certain medications or chemicals during pregnancy can increase the risk of congenital foot deformities.

Congenital foot deformities can be diagnosed through a physical examination, X-rays, and other imaging tests. Treatment options depend on the specific type and severity of the deformity, but may include:

1. Observation and monitoring: Mild cases of congenital foot deformities may not require immediate treatment and can be monitored with regular check-ups to see if any changes occur.
2. Orthotics and shoe inserts: Customized shoe inserts or orthotics can help redistribute pressure and support the foot in a more neutral position.
3. Casting or bracing: In some cases, casting or bracing may be used to help straighten the foot and promote proper alignment.
4. Surgery: In severe cases of congenital foot deformities, surgery may be necessary to correct the deformity. This can involve cutting or realigning bones, tendons, or other soft tissue to achieve a more normal foot position.
5. Physical therapy: After treatment, physical therapy may be recommended to help improve strength and range of motion in the affected foot.

These disorders are caused by changes in specific genes that fail to function properly, leading to a cascade of effects that can damage cells and tissues throughout the body. Some inherited diseases are the result of single gene mutations, while others are caused by multiple genetic changes.

Inherited diseases can be diagnosed through various methods, including:

1. Genetic testing: This involves analyzing a person's DNA to identify specific genetic changes that may be causing the disease.
2. Blood tests: These can help identify certain inherited diseases by measuring enzyme levels or identifying specific proteins in the blood.
3. Imaging studies: X-rays, CT scans, and MRI scans can help identify structural changes in the body that may be indicative of an inherited disease.
4. Physical examination: A healthcare provider may perform a physical examination to look for signs of an inherited disease, such as unusual physical features or abnormalities.

Inherited diseases can be treated in various ways, depending on the specific condition and its causes. Some treatments include:

1. Medications: These can help manage symptoms and slow the progression of the disease.
2. Surgery: In some cases, surgery may be necessary to correct physical abnormalities or repair damaged tissues.
3. Gene therapy: This involves using genes to treat or prevent inherited diseases.
4. Rehabilitation: Physical therapy, occupational therapy, and other forms of rehabilitation can help individuals with inherited diseases manage their symptoms and improve their quality of life.

Inherited diseases are a significant public health concern, as they affect millions of people worldwide. However, advances in genetic research and medical technology have led to the development of new treatments and management strategies for these conditions. By working with healthcare providers and advocacy groups, individuals with inherited diseases can access the resources and support they need to manage their conditions and improve their quality of life.

There are several subtypes of MDS, each with distinct clinical features and prognosis. The most common subtype is refractory anemia with excess blasts (RAEB), followed by chronic myelomonocytic leukemia (CMMoL) and acute myeloid leukemia (AML).

The exact cause of MDS is not fully understood, but it is believed to result from a combination of genetic mutations and environmental factors. Risk factors for developing MDS include exposure to certain chemicals or radiation, age over 60, and a history of previous cancer treatment.

Symptoms of MDS can vary depending on the specific subtype and severity of the disorder, but may include fatigue, weakness, shortness of breath, infection, bleeding, and easy bruising. Diagnosis is typically made through a combination of physical examination, medical history, blood tests, and bone marrow biopsy.

Treatment for MDS depends on the specific subtype and severity of the disorder, as well as the patient's overall health and preferences. Options may include supportive care, such as blood transfusions and antibiotics, or more intensive therapies like chemotherapy, bone marrow transplantation, or gene therapy.

Overall, myelodysplastic syndromes are a complex and heterogeneous group of disorders that can have a significant impact on quality of life and survival. Ongoing research is focused on improving diagnostic accuracy, developing more effective treatments, and exploring novel therapeutic approaches to improve outcomes for patients with MDS.

CMT is caused by mutations in genes that are responsible for producing proteins that support the structure and function of the peripheral nerves. These mutations lead to a progressive loss of nerve fibers, particularly in the legs and feet, but also in the hands and arms. As a result, people with CMT often experience muscle weakness, numbness or tingling sensations, and foot deformities such as hammertoes and high arches. They may also have difficulty walking, balance problems, and decreased reflexes.

There are several types of Charcot-Marie-Tooth disease, each with different symptoms and progression. Type 1 is the most common form and typically affects children, while type 2 is more severe and often affects adults. Other types include type 3, which causes muscle weakness and atrophy, and type 4, which affects the hands and feet but not the legs.

There is no cure for Charcot-Marie-Tooth disease, but there are several treatments available to manage its symptoms. These may include physical therapy, braces or orthotics, pain medication, and surgery. In some cases, a stem cell transplant may be recommended to replace damaged nerve cells with healthy ones.

Early diagnosis of Charcot-Marie-Tooth disease is important to ensure proper management and prevention of complications. Treatment can help improve quality of life and slow the progression of the disease. With appropriate support and accommodations, people with CMT can lead active and fulfilling lives.

1. Medical Definition: In medicine, dwarfism is defined as a condition where an individual's height is significantly below the average range for their age and gender. The term "dwarfism" is often used interchangeably with "growth hormone deficiency," but the two conditions are not the same. Growth hormone deficiency is a specific cause of dwarfism, but there can be other causes as well, such as genetic mutations or chromosomal abnormalities.
2. Genetic Definition: From a genetic perspective, dwarfism can be defined as a condition caused by a genetic mutation or variation that results in short stature. There are many different genetic causes of dwarfism, including those caused by mutations in the growth hormone receptor gene, the insulin-like growth factor 1 (IGF1) gene, and other genes involved in growth and development.
3. Anthropological Definition: In anthropology, dwarfism is defined as a physical characteristic that is considered to be outside the normal range for a particular population or culture. This can include individuals who are short-statured due to various causes, including genetics, nutrition, or environmental factors.
4. Social Definition: From a social perspective, dwarfism can be defined as a condition that is perceived to be different or abnormal by society. Individuals with dwarfism may face social stigma, discrimination, and other forms of prejudice due to their physical appearance.
5. Legal Definition: In some jurisdictions, dwarfism may be defined as a disability or a medical condition that is protected by anti-discrimination laws. This can provide legal protections for individuals with dwarfism and ensure that they have access to the same rights and opportunities as others.

In summary, the definition of dwarfism can vary depending on the context in which it is used, and it may be defined differently by different disciplines and communities. It is important to recognize and respect the diversity of individuals with dwarfism and to provide support and accommodations as needed to ensure their well-being and inclusion in society.

Examples of X-linked genetic diseases include:

* Hemophilia A and B
* Duchenne muscular dystrophy
* Connexin 26 (GJB2) deafness
* Fragile X syndrome
* X-linked mental retardation
* Juvenile primary lateral sclerosis
* Myotonic dystrophy type 1

X-linked diseases can be caused by mutations in various genes, including those involved in blood clotting, muscle function, and hearing. These conditions often have a significant impact on quality of life and can be inherited from one generation to the next. However, advances in medical technology and research offer hope for improved treatments and potential cures.

Prevention of X-linked diseases is challenging but possible through various methods such as:

1. Genetic counseling: Providing information about the risks and inheritance patterns of X-linked conditions to families can help them make informed decisions about their reproductive options.
2. Prenatal testing: Testing the fetus during pregnancy can identify X-linked mutations and allow for appropriate planning and decision-making.
3. Carrier testing: Identifying carriers of X-linked conditions can help families understand their risk and make informed decisions about their reproductive options.
4. Gene therapy: Experimental treatments that correct or replace the faulty gene responsible for the condition offer hope for improved outcomes.
5. Treatment and management: Various therapeutic approaches, including medication, physical therapy, and surgery, can help manage symptoms and improve quality of life.

In conclusion, X-linked genetic diseases are a significant portion of inherited disorders that have a profound impact on families and individuals affected by them. While there is no cure for these conditions, advances in medical technology and research offer hope for improved treatments and potential cures. By understanding the causes, symptoms, diagnosis, and prevention methods, families can make informed decisions about their reproductive options and receive appropriate care and support.

There are several types of muscular dystrophies, including:

1. Duchenne muscular dystrophy (DMD): This is the most common form of muscular dystrophy, affecting males primarily. It is caused by a mutation in the dystrophin gene and is characterized by progressive muscle weakness, wheelchair dependence, and shortened lifespan.
2. Becker muscular dystrophy (BMD): This is a less severe form of muscular dystrophy than DMD, affecting both males and females. It is caused by a mutation in the dystrophin gene and is characterized by progressive muscle weakness, but with a milder course than DMD.
3. Limb-girdle muscular dystrophy (LGMD): This is a group of disorders that affect the muscles around the shoulders and hips, leading to progressive weakness and degeneration. There are several subtypes of LGMD, each with different symptoms and courses.
4. Facioscapulohumeral muscular dystrophy (FSHD): This is a rare form of muscular dystrophy that affects the muscles of the face, shoulder, and upper arm. It is caused by a mutation in the D4Z4 repeat on chromosome 4.
5. Myotonic dystrophy: This is the most common adult-onset form of muscular dystrophy, affecting both males and females. It is characterized by progressive muscle stiffness, weakness, and wasting, as well as other symptoms such as cataracts, myotonia, and cognitive impairment.

There is currently no cure for muscular dystrophies, but various treatments are available to manage the symptoms and slow the progression of the disease. These include physical therapy, orthotics and assistive devices, medications to manage pain and other symptoms, and in some cases, surgery. Researchers are actively working to develop new treatments and a cure for muscular dystrophies, including gene therapy, stem cell therapy, and small molecule therapies.

It's important to note that muscular dystrophy can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner, depending on the specific type of dystrophy. This means that the risk of inheriting the condition depends on the mode of inheritance and the presence of mutations in specific genes.

In summary, muscular dystrophy is a group of genetic disorders characterized by progressive muscle weakness and degeneration. There are several types of muscular dystrophy, each with different symptoms and courses. While there is currently no cure for muscular dystrophy, various treatments are available to manage the symptoms and slow the progression of the disease. Researchers are actively working to develop new treatments and a cure for muscular dystrophy.

Pre-B ALL is characterized by the abnormal growth of immature white blood cells called B lymphocytes. These cells are produced in the bone marrow and are normally present in the blood. In Pre-B ALL, the abnormal B cells accumulate in the bone marrow, blood, and other organs, crowding out normal cells and causing a variety of symptoms.

The symptoms of Pre-B ALL can vary depending on the individual patient, but may include:

* Fatigue
* Easy bruising or bleeding
* Frequent infections
* Swollen lymph nodes
* Enlarged liver or spleen
* Bone pain
* Headaches
* Confusion or seizures (in severe cases)

Pre-B ALL is most commonly diagnosed in children, but it can also occur in adults. Treatment typically involves a combination of chemotherapy and sometimes bone marrow transplantation. The prognosis for Pre-B ALL is generally good, especially in children, with a high survival rate if treated promptly and effectively. However, the cancer can be more difficult to treat in adults, and the prognosis may be less favorable.

Overall, Pre-B ALL is a rare and aggressive form of leukemia that requires prompt and specialized treatment to improve outcomes for patients.

Physical Features:

* Delayed growth and short stature
* Broad forehead
* Long, narrow face with a wide mouth and full lips
* Wide-set eyes that are often blue or green
* Low-set ears
* Curly or wavy hair

Developmental Features:

* Intellectual disability or cognitive impairment
* Delayed speech and language development
* Difficulty with fine motor skills and hand-eye coordination
* Poor musical ability

Personality Profile:

* Friendly and outgoing personality
* High level of empathy and compassion for others
* Excellent social skills
* Love of music and dance
* Curiosity and playfulness

Causes and Inheritance:

Williams syndrome is caused by a deletion of genetic material from chromosome 7, specifically the q11.23 region. This deletion occurs spontaneously, without a known family history or environmental trigger. The disorder is not inherited in a Mendelian pattern, meaning that it does not follow traditional patterns of inheritance.

Diagnosis:

Williams syndrome can be diagnosed through a combination of physical and developmental assessments, as well as genetic testing. Physical features such as broad foreheads and wide mouths are often present at birth, while developmental delays and cognitive impairments may not become apparent until later in childhood. Genetic testing can confirm the diagnosis by identifying the deletion of genetic material on chromosome 7.

Treatment and Management:

There is no cure for Williams syndrome, but early intervention and specialized management can help individuals with the disorder reach their full potential. Treatment may include:

* Physical therapy to improve fine motor skills and coordination
* Speech and language therapy to improve communication skills
* Occupational therapy to develop daily living skills
* Special education programs tailored to individual needs
* Medications to manage cardiovascular problems, hypertension, and sleep disorders

Prognosis:

The prognosis for individuals with Williams syndrome varies depending on the severity of the symptoms. Some individuals may experience significant developmental delays and cognitive impairments, while others may have fewer or no symptoms. With early intervention and specialized management, many individuals with Williams syndrome can lead fulfilling lives and achieve their full potential.

Inheritance Pattern:

Williams syndrome is not inherited in a Mendelian pattern, meaning that it does not follow traditional patterns of inheritance. The disorder is caused by a spontaneous deletion of genetic material on chromosome 7, and there is no known family history or environmental trigger. Each child of an individual with Williams syndrome has a 50% chance of inheriting the deletion and developing the disorder.

Prenatal Testing:

Prenatal testing for Williams syndrome is available but not routine. The test is typically offered to pregnant women who have a family history of the disorder or who have had a previous child with Williams syndrome. Prenatal testing involves analyzing cells from the developing fetus, usually through chorionic villus sampling (CVS) or amniocentesis.

Genetic Counseling:

Genetic counseling is essential for individuals and families affected by Williams syndrome. A genetic counselor can provide information on the inheritance pattern of the disorder, discuss prenatal testing options, and offer guidance on managing the condition. Genetic counseling can also help families understand the risks and benefits of genetic testing and make informed decisions about their reproductive options.

In conclusion, Williams syndrome is a rare genetic disorder that affects approximately 1 in 10,000 individuals worldwide. It is caused by a spontaneous deletion of genetic material on chromosome 7 and is characterized by developmental delays, cognitive impairments, and cardiovascular problems. Early intervention and specialized management can significantly improve the prognosis for individuals with Williams syndrome. Prenatal testing and genetic counseling are available for families who have a risk of inheriting the disorder. With proper care and support, individuals with Williams syndrome can lead fulfilling lives and achieve their full potential.

1) They share similarities with humans: Many animal species share similar biological and physiological characteristics with humans, making them useful for studying human diseases. For example, mice and rats are often used to study diseases such as diabetes, heart disease, and cancer because they have similar metabolic and cardiovascular systems to humans.

2) They can be genetically manipulated: Animal disease models can be genetically engineered to develop specific diseases or to model human genetic disorders. This allows researchers to study the progression of the disease and test potential treatments in a controlled environment.

3) They can be used to test drugs and therapies: Before new drugs or therapies are tested in humans, they are often first tested in animal models of disease. This allows researchers to assess the safety and efficacy of the treatment before moving on to human clinical trials.

4) They can provide insights into disease mechanisms: Studying disease models in animals can provide valuable insights into the underlying mechanisms of a particular disease. This information can then be used to develop new treatments or improve existing ones.

5) Reduces the need for human testing: Using animal disease models reduces the need for human testing, which can be time-consuming, expensive, and ethically challenging. However, it is important to note that animal models are not perfect substitutes for human subjects, and results obtained from animal studies may not always translate to humans.

6) They can be used to study infectious diseases: Animal disease models can be used to study infectious diseases such as HIV, TB, and malaria. These models allow researchers to understand how the disease is transmitted, how it progresses, and how it responds to treatment.

7) They can be used to study complex diseases: Animal disease models can be used to study complex diseases such as cancer, diabetes, and heart disease. These models allow researchers to understand the underlying mechanisms of the disease and test potential treatments.

8) They are cost-effective: Animal disease models are often less expensive than human clinical trials, making them a cost-effective way to conduct research.

9) They can be used to study drug delivery: Animal disease models can be used to study drug delivery and pharmacokinetics, which is important for developing new drugs and drug delivery systems.

10) They can be used to study aging: Animal disease models can be used to study the aging process and age-related diseases such as Alzheimer's and Parkinson's. This allows researchers to understand how aging contributes to disease and develop potential treatments.

The exact cause of hypertelorism is not known, but it is thought to be related to genetic mutations that affect the development of the skull and face during fetal development. The condition can run in families, and there may be a higher risk of recurrence if there is a family history of hypertelorism or other similar conditions.

There are several distinct types of hypertelorism, including:

* Isolated hypertelorism: This is the most common type and is characterized by an abnormal distance between the orbits without any other facial anomalies.
* Syndromic hypertelorism: This type is associated with other congenital anomalies, such as cleft lip and palate, hearing loss, and intellectual disability.
* Familial hypertelorism: This type runs in families and may be associated with other genetic conditions.

There is no specific treatment for hypertelorism, but rather a multidisciplinary approach that includes:

* Monitoring and management of any associated conditions, such as hearing loss or intellectual disability.
* Orthodontic treatment to help align the teeth and improve the appearance of the smile.
* Ophthalmological monitoring to ensure proper eye care and vision development.
* Surgical intervention to correct any facial anomalies, such as cleft lip and palate, or to improve the appearance of the face.

The prognosis for individuals with hypertelorism varies depending on the severity of the condition and the presence of any associated anomalies. In general, early diagnosis and appropriate management can help improve the outcomes and quality of life for individuals with this condition.

Also known as Burkitt's Lymphoma.

Here are some examples of how the term "facies" may be used in a medical context:

1. Facial asymmetry: A patient with facial asymmetry may have one side of their face that is noticeably different from the other, either due to a birth defect or as a result of trauma or surgery.
2. Facial dysmorphia: This is a condition in which a person has a distorted perception of their own facial appearance, leading them to seek repeated cosmetic procedures or to feel self-conscious about their face.
3. Facies of a particular syndrome: Certain medical conditions, such as Down syndrome or Turner syndrome, can have distinctive facial features that are used to help diagnose the condition.
4. Facial trauma: A patient who has suffered an injury to their face may have a facies that is disrupted or misshapen as a result of the trauma.
5. Facial aging: As people age, their facial features can change in predictable ways, such as sagging of the skin, deepening of wrinkles, and loss of fat volume. A doctor might use the term "facies" to describe these changes and plan appropriate treatments, such as a facelift or dermal fillers.

In general, the term "facies" is used by healthcare professionals to describe any aspect of a patient's facial appearance that may be relevant to their diagnosis or treatment. It is a useful way to communicate information about a patient's face in a precise and objective manner.

There are several types of lung neoplasms, including:

1. Adenocarcinoma: This is the most common type of lung cancer, accounting for approximately 40% of all lung cancers. It is a malignant tumor that originates in the glands of the respiratory tract and can be found in any part of the lung.
2. Squamous cell carcinoma: This type of lung cancer accounts for approximately 25% of all lung cancers and is more common in men than women. It is a malignant tumor that originates in the squamous cells lining the airways of the lungs.
3. Small cell lung cancer (SCLC): This is a highly aggressive form of lung cancer that accounts for approximately 15% of all lung cancers. It is often found in the central parts of the lungs and can spread quickly to other parts of the body.
4. Large cell carcinoma: This is a rare type of lung cancer that accounts for only about 5% of all lung cancers. It is a malignant tumor that originates in the large cells of the respiratory tract and can be found in any part of the lung.
5. Bronchioalveolar carcinoma (BAC): This is a rare type of lung cancer that originates in the cells lining the airways and alveoli of the lungs. It is more common in women than men and tends to affect older individuals.
6. Lymphangioleiomyomatosis (LAM): This is a rare, progressive, and often fatal lung disease that primarily affects women of childbearing age. It is characterized by the growth of smooth muscle-like cells in the lungs and can lead to cysts, lung collapse, and respiratory failure.
7. Hamartoma: This is a benign tumor that originates in the tissue of the lungs and is usually found in children. It is characterized by an overgrowth of normal lung tissue and can be treated with surgery.
8. Secondary lung cancer: This type of cancer occurs when cancer cells from another part of the body spread to the lungs through the bloodstream or lymphatic system. It is more common in people who have a history of smoking or exposure to other carcinogens.
9. Metastatic cancer: This type of cancer occurs when cancer cells from another part of the body spread to the lungs through the bloodstream or lymphatic system. It is more common in people who have a history of smoking or exposure to other carcinogens.
10. Mesothelioma: This is a rare and aggressive form of cancer that originates in the lining of the lungs or abdomen. It is caused by asbestos exposure and can be treated with surgery, chemotherapy, and radiation therapy.

Lung diseases can also be classified based on their cause, such as:

1. Infectious diseases: These are caused by bacteria, viruses, or other microorganisms and can include pneumonia, tuberculosis, and bronchitis.
2. Autoimmune diseases: These are caused by an overactive immune system and can include conditions such as sarcoidosis and idiopathic pulmonary fibrosis.
3. Genetic diseases: These are caused by inherited mutations in genes that affect the lungs and can include cystic fibrosis and primary ciliary dyskinesia.
4. Environmental diseases: These are caused by exposure to harmful substances such as tobacco smoke, air pollution, and asbestos.
5. Radiological diseases: These are caused by exposure to ionizing radiation and can include conditions such as radiographic breast cancer and lung cancer.
6. Vascular diseases: These are caused by problems with the blood vessels in the lungs and can include conditions such as pulmonary embolism and pulmonary hypertension.
7. Tumors: These can be benign or malignant and can include conditions such as lung metastases and lung cancer.
8. Trauma: This can include injuries to the chest or lungs caused by accidents or other forms of trauma.
9. Congenital diseases: These are present at birth and can include conditions such as bronchopulmonary foregut malformations and congenital cystic adenomatoid malformation.

Each type of lung disease has its own set of symptoms, diagnosis, and treatment options. It is important to seek medical attention if you experience any persistent or severe respiratory symptoms, as early diagnosis and treatment can improve outcomes and quality of life.

The two main types of lymphoid leukemia are:

1. Acute Lymphoblastic Leukemia (ALL): This type of leukemia is most commonly seen in children, but it can also occur in adults. It is characterized by a rapid increase in the number of immature white blood cells in the blood and bone marrow.
2. Chronic Lymphocytic Leukemia (CLL): This type of leukemia usually affects older adults and is characterized by the gradual buildup of abnormal white blood cells in the blood, bone marrow, and lymph nodes.

Symptoms of lymphoid leukemia include fatigue, fever, night sweats, weight loss, and swollen lymph nodes. Treatment options for lymphoid leukemia can vary depending on the type of cancer and the severity of symptoms, but may include chemotherapy, radiation therapy, or bone marrow transplantation.

The disorder is caused by a defect in one copy of the D4Z4 repeat on chromosome 4, which leads to the degeneration of muscle fibers and a loss of motor neurons. The age of onset and progression of the disease vary widely, with some individuals experiencing symptoms in childhood while others may not develop them until adulthood.

There is no cure for FSHD, but various treatments can help manage the symptoms and slow its progression. These include physical therapy, bracing and orthotics, medications to reduce inflammation and pain, and in some cases, surgery. Research into the genetic causes of the disorder is ongoing, with the goal of developing new and more effective treatments.

There are several types of disease susceptibility, including:

1. Genetic predisposition: This refers to the inherent tendency of an individual to develop a particular disease due to their genetic makeup. For example, some families may have a higher risk of developing certain diseases such as cancer or heart disease due to inherited genetic mutations.
2. Environmental susceptibility: This refers to the increased risk of developing a disease due to exposure to environmental factors such as pollutants, toxins, or infectious agents. For example, someone who lives in an area with high levels of air pollution may be more susceptible to developing respiratory problems.
3. Lifestyle susceptibility: This refers to the increased risk of developing a disease due to unhealthy lifestyle choices such as smoking, lack of exercise, or poor diet. For example, someone who smokes and is overweight may be more susceptible to developing heart disease or lung cancer.
4. Immune system susceptibility: This refers to the increased risk of developing a disease due to an impaired immune system. For example, people with autoimmune disorders such as HIV/AIDS or rheumatoid arthritis may be more susceptible to opportunistic infections.

Understanding disease susceptibility can help healthcare providers identify individuals who are at risk of developing certain diseases and provide preventive measures or early intervention to reduce the risk of disease progression. Additionally, genetic testing can help identify individuals with a high risk of developing certain diseases, allowing for earlier diagnosis and treatment.

In summary, disease susceptibility refers to the predisposition of an individual to develop a particular disease or condition due to various factors such as genetics, environment, lifestyle choices, and immune system function. Understanding disease susceptibility can help healthcare providers identify individuals at risk and provide appropriate preventive measures or early intervention to reduce the risk of disease progression.

There are several types of lymphoma, including:

1. Hodgkin lymphoma: This is a type of lymphoma that originates in the white blood cells called Reed-Sternberg cells. It is characterized by the presence of giant cells with multiple nucleoli.
2. Non-Hodgkin lymphoma (NHL): This is a type of lymphoma that does not meet the criteria for Hodgkin lymphoma. There are many subtypes of NHL, each with its own unique characteristics and behaviors.
3. Cutaneous lymphoma: This type of lymphoma affects the skin and can take several forms, including cutaneous B-cell lymphoma and cutaneous T-cell lymphoma.
4. Primary central nervous system (CNS) lymphoma: This is a rare type of lymphoma that develops in the brain or spinal cord.
5. Post-transplantation lymphoproliferative disorder (PTLD): This is a type of lymphoma that develops in people who have undergone an organ transplant, often as a result of immunosuppressive therapy.

The symptoms of lymphoma can vary depending on the type and location of the cancer. Some common symptoms include:

* Swollen lymph nodes
* Fever
* Fatigue
* Weight loss
* Night sweats
* Itching

Lymphoma is diagnosed through a combination of physical examination, imaging tests (such as CT scans or PET scans), and biopsies. Treatment options for lymphoma depend on the type and stage of the cancer, and may include chemotherapy, radiation therapy, immunotherapy, or stem cell transplantation.

Overall, lymphoma is a complex and diverse group of cancers that can affect people of all ages and backgrounds. While it can be challenging to diagnose and treat, advances in medical technology and research have improved the outlook for many patients with lymphoma.

Some common types of eye abnormalities include:

1. Refractive errors: These are errors in the way the eye focuses light, causing blurry vision. Examples include myopia (nearsightedness), hyperopia (farsightedness), astigmatism, and presbyopia (age-related loss of near vision).
2. Amblyopia: This is a condition where the brain favors one eye over the other, causing poor vision in the weaker eye.
3. Cataracts: A cataract is a clouding of the lens in the eye that can cause blurry vision and increase the risk of glaucoma.
4. Glaucoma: This is a group of eye conditions that can damage the optic nerve and lead to vision loss.
5. Macular degeneration: This is a condition where the macula, the part of the retina responsible for central vision, deteriorates, leading to vision loss.
6. Diabetic retinopathy: This is a complication of diabetes that can damage the blood vessels in the retina and lead to vision loss.
7. Retinal detachment: This is a condition where the retina becomes separated from the underlying tissue, leading to vision loss.
8. Corneal abnormalities: These are irregularities in the shape or structure of the cornea, such as keratoconus, that can cause blurry vision.
9. Optic nerve disorders: These are conditions that affect the optic nerve, such as optic neuritis, that can cause vision loss.
10. Traumatic eye injuries: These are injuries to the eye or surrounding tissue that can cause vision loss or other eye abnormalities.

Eye abnormalities can be diagnosed through a comprehensive eye exam, which may include visual acuity tests, refraction tests, and imaging tests such as retinal photography or optical coherence tomography (OCT). Treatment for eye abnormalities depends on the specific condition and may include glasses or contact lenses, medication, surgery, or other therapies.

Adenocarcinoma is a term used to describe a variety of different types of cancer that arise in glandular tissue, including:

1. Colorectal adenocarcinoma (cancer of the colon or rectum)
2. Breast adenocarcinoma (cancer of the breast)
3. Prostate adenocarcinoma (cancer of the prostate gland)
4. Pancreatic adenocarcinoma (cancer of the pancreas)
5. Lung adenocarcinoma (cancer of the lung)
6. Thyroid adenocarcinoma (cancer of the thyroid gland)
7. Skin adenocarcinoma (cancer of the skin)

The symptoms of adenocarcinoma depend on the location of the cancer and can include:

1. Blood in the stool or urine
2. Abdominal pain or discomfort
3. Changes in bowel habits
4. Unusual vaginal bleeding (in the case of endometrial adenocarcinoma)
5. A lump or thickening in the breast or elsewhere
6. Weight loss
7. Fatigue
8. Coughing up blood (in the case of lung adenocarcinoma)

The diagnosis of adenocarcinoma is typically made through a combination of imaging tests, such as CT scans, MRI scans, and PET scans, and a biopsy, which involves removing a sample of tissue from the affected area and examining it under a microscope for cancer cells.

Treatment options for adenocarcinoma depend on the location of the cancer and can include:

1. Surgery to remove the tumor
2. Chemotherapy, which involves using drugs to kill cancer cells
3. Radiation therapy, which involves using high-energy X-rays or other particles to kill cancer cells
4. Targeted therapy, which involves using drugs that target specific molecules on cancer cells to kill them
5. Immunotherapy, which involves using drugs that stimulate the immune system to fight cancer cells.

The prognosis for adenocarcinoma is generally good if the cancer is detected and treated early, but it can be more challenging to treat if the cancer has spread to other parts of the body.

A condition in which spontaneous abortions occur repeatedly, often due to an underlying cause such as a uterine anomaly or infection. Also called recurrent spontaneous abortion.

Synonym(s): habitual abortion, recurrent abortion, spontaneous abortion.

Antonym(s): multiple pregnancy, retained placenta.

Example Sentence: "The patient had experienced four habitual abortions in the past year and was concerned about her ability to carry a pregnancy to term."

The Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) defines Autistic Disorder as a pervasive developmental disorder that meets the following criteria:

A. Persistent deficits in social communication and social interaction across multiple contexts, including:

1. Deficits in social-emotional reciprocity (e.g., abnormal or absent eye contact, impaired understanding of facial expressions, delayed or lack of response to social overtures).
2. Deficits in developing, maintaining, and understanding relationships (e.g., difficulty initiating or sustaining conversations, impairment in understanding social norms, rules, and expectations).
3. Deficits in using nonverbal behaviors to regulate social interaction (e.g., difficulty with eye contact, facial expressions, body language, gestures).

B. Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least one of the following:

1. Stereotyped or repetitive motor movements, use of objects, or speech (e.g., hand flapping, head banging, repeating words or phrases).
2. Insistence on sameness, inflexibility, and adherence to routines or rituals.
3. Preoccupation with specific interests or activities that are repeated in a rigid and restricted manner (e.g., preoccupation with a particular topic, excessive focus on a specific activity).

C. Symptoms must be present in the early developmental period and significantly impact social, occupational, or other areas of functioning.

D. The symptoms do not occur exclusively during a medical or neurological condition (e.g., intellectual disability, hearing loss).

It is important to note that Autistic Disorder is a spectrum disorder and individuals with this diagnosis may have varying degrees of severity in their symptoms. Additionally, there are several other Pervasive Developmental Disorders (PDDs) that have similar diagnostic criteria but may differ in severity and presentation. These include:

A. Asperger's Disorder: Characterized by difficulties with social interaction and communication, but without the presence of significant delay or retardation in language development.

B. Rett Syndrome: A rare genetic disorder that is characterized by difficulties with social interaction, communication, and repetitive behaviors.

C. Childhood Disintegrative Disorder: Characterized by a loss of language and social skills that occurs after a period of normal development.

It is important to consult with a qualified professional, such as a psychologist or psychiatrist, for an accurate diagnosis and appropriate treatment.

Examples:

1. Retinal coloboma: A condition where a hole or gap in the retina, the light-sensitive tissue at the back of the eye, can cause vision loss or blindness.
2. Cerebral coloboma: A condition where a part of the brain is missing or underdeveloped, which can result in intellectual disability, seizures, and other neurological symptoms.
3. Coloboma of the eye: A condition where the iris or optic nerve is not properly formed, leading to vision problems such as amblyopia (lazy eye) or strabismus (crossed eyes).

Note: Coloboma is a relatively rare condition and can be diagnosed through imaging tests such as ultrasound, CT scan, or MRI. Treatment options vary depending on the location and severity of the defect, and may include surgery, medication, or other interventions to manage associated symptoms.

Meningioma can occur in various locations within the brain, including the cerebrum, cerebellum, brainstem, and spinal cord. The most common type of meningioma is the meningothelial meningioma, which arises from the arachnoid membrane, one of the three layers of the meninges. Other types of meningioma include the dural-based meningioma, which originates from the dura mater, and the fibrous-cap meningioma, which is characterized by a fibrous cap covering the tumor.

The symptoms of meningioma can vary depending on the location and size of the tumor, but they often include headaches, seizures, weakness or numbness in the arms or legs, and changes in vision, memory, or cognitive function. As the tumor grows, it can compress the brain tissue and cause damage to the surrounding structures, leading to more severe symptoms such as difficulty speaking, walking, or controlling movement.

The diagnosis of meningioma typically involves a combination of imaging studies such as MRI or CT scans, and tissue sampling through biopsy or surgery. Treatment options for meningioma depend on the size, location, and aggressiveness of the tumor, but may include surgery, radiation therapy, and chemotherapy. Overall, the prognosis for meningioma is generally good, with many patients experiencing a good outcome after treatment. However, some types of meningioma can be more aggressive and difficult to treat, and the tumor may recur in some cases.

Benign ovarian neoplasms include:

1. Serous cystadenoma: A fluid-filled sac that develops on the surface of the ovary.
2. Mucinous cystadenoma: A tumor that is filled with mucin, a type of protein.
3. Endometrioid tumors: Tumors that are similar to endometrial tissue (the lining of the uterus).
4. Theca cell tumors: Tumors that develop in the supportive tissue of the ovary called theca cells.

Malignant ovarian neoplasms include:

1. Epithelial ovarian cancer (EOC): The most common type of ovarian cancer, which arises from the surface epithelium of the ovary.
2. Germ cell tumors: Tumors that develop from germ cells, which are the cells that give rise to eggs.
3. Stromal sarcomas: Tumors that develop in the supportive tissue of the ovary.

Ovarian neoplasms can cause symptoms such as pelvic pain, abnormal bleeding, and abdominal swelling. They can also be detected through pelvic examination, imaging tests such as ultrasound and CT scan, and biopsy. Treatment options for ovarian neoplasms depend on the type, stage, and location of the tumor, and may include surgery, chemotherapy, and radiation therapy.

1. Innate immunity: This is the body's first line of defense against infection, and it involves the recognition and elimination of pathogens by cells and proteins that are present from birth.
2. Acquired immunity: This type of immunity develops over time as a result of exposure to pathogens, and it involves the production of antibodies and other immune cells that can recognize and eliminate specific pathogens.
3. Cell-mediated immunity: This is a type of immunity that involves the activation of immune cells, such as T cells and macrophages, to fight off infection.
4. Genetic resistance: Some individuals may have a genetic predisposition to disease resistance, which can be influenced by their ancestry or genetic makeup.
5. Environmental factors: Exposure to certain environmental factors, such as sunlight, clean water, and good nutrition, can also contribute to disease resistance.

Disease resistance is an important concept in the medical field, as it helps to protect against infectious diseases and can reduce the risk of illness and death. Understanding how disease resistance works can help healthcare professionals develop effective strategies for preventing and treating infections, and it can also inform public health policies and interventions aimed at reducing the burden of infectious diseases on individuals and communities.

Plasmacytoma is a type of plasma cell dyscrasia, which is a group of diseases that affect the production and function of plasma cells. Plasma cells are a type of white blood cell that produces antibodies to fight infections. In plasmacytoma, the abnormal plasma cells grow and multiply out of control, leading to a tumor.

There are several subtypes of plasmacytoma, including:

* solitary plasmacytoma: A single tumor that occurs in one location.
* multiple myeloma: A type of cancer that affects the bones and is characterized by an overgrowth of malignant plasma cells in the bone marrow.
* extramedullary plasmacytoma: A tumor that occurs outside of the bone marrow, such as in soft tissue or organs.

Plasmacytoma is usually diagnosed through a combination of physical examination, imaging tests such as X-rays or CT scans, and biopsy. Treatment typically involves chemotherapy and/or radiation therapy to destroy the abnormal cells. In some cases, surgery may be necessary to remove the tumor.

Plasmacytoma is a relatively rare cancer, but it can be aggressive and potentially life-threatening if left untreated. It is important for patients with symptoms of plasmacytoma to seek medical attention as soon as possible to receive an accurate diagnosis and appropriate treatment.

Types of triploidy:

There are two main types of triploidy:

1. Trisomy 21: This type of triploidy occurs when there is an extra copy of chromosome 21, resulting in a total of three copies of that chromosome. Trisomy 21 is the most common type of triploidy and is associated with Down syndrome, a genetic disorder that can cause intellectual disability, developmental delays, and other health problems.
2. Triploidy with other chromosomal abnormalities: This type of triploidy occurs when there are extra copies of other chromosomes in addition to chromosome 21. This can result in a wide range of developmental delays, intellectual disability, and other health problems.

Causes of triploidy:

Triploidy can occur due to various factors, including:

1. Genetic mutation: Triploidy can occur when there is a genetic mutation during embryonic development that results in an extra set of chromosomes.
2. Fertilization errors: Errors during fertilization can result in the formation of an extra set of chromosomes, leading to triploidy.
3. Maternal age: Advanced maternal age has been linked to an increased risk of triploidy, as older eggs are more likely to have genetic mutations that can lead to extra sets of chromosomes.
4. Assisted reproductive technology (ART): Triploidy can occur in children conceived through ART techniques such as in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI).

Symptoms of triploidy:

The symptoms of triploidy can vary depending on the type and severity of the condition. Some common symptoms include:

1. Growth delays: Children with triploidy may experience slow growth and development, and may be shorter and lighter than their peers.
2. Intellectual disability: Triploidy can result in intellectual disability, which is characterized by below-average intelligence and difficulty with daily living skills.
3. Developmental delays: Children with triploidy may experience delays in reaching developmental milestones, such as sitting, standing, and walking.
4. Physical abnormalities: Triploidy can result in a range of physical abnormalities, including heart defects, craniofacial abnormalities, and limb abnormalities.
5. Health problems: Children with triploidy may experience a range of health problems, including respiratory infections, feeding difficulties, and gastrointestinal issues.

Diagnosis of triploidy:

Triploidy can be diagnosed through a variety of tests, including:

1. Chromosomal analysis: This involves examining the child's cells to determine if they have three copies of every chromosome.
2. Ultrasound: An ultrasound can be used to examine the baby's physical characteristics and identify any abnormalities.
3. Blood tests: Blood tests can be used to measure the levels of certain substances in the body, such as hormone levels, which can help confirm a diagnosis of triploidy.
4. Amniocentesis: This is a test that involves inserting a needle into the uterus to collect a sample of the amniotic fluid surrounding the fetus. The fluid can be analyzed for signs of triploidy.

Treatment and management of triploidy:

There is no cure for triploidy, and treatment is focused on managing the symptoms and preventing complications. Some common treatments include:

1. Medications: Children with triploidy may require medication to manage seizures, developmental delays, and other symptoms.
2. Physical therapy: Physical therapy can help children with triploidy develop gross motor skills and improve their mobility.
3. Speech therapy: Speech therapy can help children with triploidy improve their communication skills and address any language delays.
4. Occupational therapy: Occupational therapy can help children with triploidy develop fine motor skills and perform daily activities.
5. Surgery: In some cases, surgery may be necessary to correct physical abnormalities or release compressed nerves.

It's important to note that each child with triploidy is unique and may require a different treatment plan. Parents should work closely with their healthcare provider to determine the best course of treatment for their child.

In summary, triploidy is a rare chromosomal condition that can cause a range of physical and developmental delays. While there is no cure for triploidy, there are various treatments available to manage the symptoms and improve quality of life. It's important for parents to receive a diagnosis from a qualified healthcare provider and work closely with them to determine the best course of treatment for their child.

There are several types of melanoma, including:

1. Superficial spreading melanoma: This is the most common type of melanoma, accounting for about 70% of cases. It usually appears as a flat or slightly raised discolored patch on the skin.
2. Nodular melanoma: This type of melanoma is more aggressive and accounts for about 15% of cases. It typically appears as a raised bump on the skin, often with a darker color.
3. Acral lentiginous melanoma: This type of melanoma affects the palms of the hands, soles of the feet, or nail beds and accounts for about 5% of cases.
4. Lentigo maligna melanoma: This type of melanoma usually affects the face and is more common in older adults.

The risk factors for developing melanoma include:

1. Ultraviolet (UV) radiation exposure from the sun or tanning beds
2. Fair skin, light hair, and light eyes
3. A history of sunburns
4. Weakened immune system
5. Family history of melanoma

The symptoms of melanoma can vary depending on the type and location of the cancer. Common symptoms include:

1. Changes in the size, shape, or color of a mole
2. A new mole or growth on the skin
3. A spot or sore that bleeds or crusts over
4. Itching or pain on the skin
5. Redness or swelling around a mole

If melanoma is suspected, a biopsy will be performed to confirm the diagnosis. Treatment options for melanoma depend on the stage and location of the cancer and may include surgery, chemotherapy, radiation therapy, or a combination of these. Early detection and treatment are key to successful outcomes in melanoma cases.

In conclusion, melanoma is a type of skin cancer that can be deadly if not detected early. It is important to practice sun safety, perform regular self-exams, and seek medical attention if any suspicious changes are noticed on the skin. By being aware of the risk factors, symptoms, and treatment options for melanoma, individuals can take steps to protect themselves from this potentially deadly disease.

People with Fragile X syndrome may have intellectual disability, developmental delays, and various physical characteristics such as large ears, long face, and joint hypermobility. They may also experience behavioral problems such as anxiety, hyperactivity, and sensory sensitivities. In addition, they are at increased risk for seizures, sleep disturbances, and other health issues.

Fragile X syndrome is usually diagnosed through a combination of clinical evaluation, genetic testing, and molecular analysis. There is no cure for the condition, but various interventions such as behavioral therapy, speech and language therapy, occupational therapy, and medications can help manage its symptoms.

Prevention of Fragile X syndrome is not possible, as it is a genetic disorder caused by an expansion of CGG repeats in the FMR1 gene. However, early identification and intervention can improve outcomes for individuals with the condition.

Overall, Fragile X syndrome is a complex and multifaceted condition that requires comprehensive and individualized care to help individuals with the condition reach their full potential.

Malignant prostatic neoplasms are cancerous tumors that can be aggressive and spread to other parts of the body (metastasize). The most common type of malignant prostatic neoplasm is adenocarcinoma of the prostate, which accounts for approximately 95% of all prostate cancers. Other types of malignant prostatic neoplasms include sarcomas and small cell carcinomas.

Prostatic neoplasms can be diagnosed through a variety of tests such as digital rectal examination (DRE), prostate-specific antigen (PSA) test, imaging studies (ultrasound, CT scan or MRI), and biopsy. Treatment options for prostatic neoplasms depend on the type, stage, and grade of the tumor, as well as the patient's age and overall health. Treatment options can include active surveillance, surgery (robotic-assisted laparoscopic prostatectomy or open prostatectomy), radiation therapy (external beam radiation therapy or brachytherapy), and hormone therapy.

In summary, Prostatic Neoplasms are tumors that occur in the prostate gland, which can be benign or malignant. The most common types of malignant prostatic neoplasms are adenocarcinoma of the prostate, and other types include sarcomas and small cell carcinomas. Diagnosis is done through a variety of tests, and treatment options depend on the type, stage, and grade of the tumor, as well as the patient's age and overall health.

There are several types of pigmentation disorders, including:

1. Vitiligo: A condition in which white patches develop on the skin due to the loss of melanin-producing cells.
2. Albinism: A rare genetic condition that results in a complete or partial absence of melanin production.
3. Melasma: A hormonal disorder that causes brown or gray patches to appear on the face, often in pregnant women or those taking hormone replacement therapy.
4. Post-inflammatory hypopigmentation (PIH): A condition where inflammation causes a loss of melanin-producing cells, leading to lighter skin tone.
5. Acne vulgaris: A common skin condition that can cause post-inflammatory hyperpigmentation (PIH), where dark spots remain after acne has healed.
6. Nevus of Ota: A benign growth that can cause depigmentation and appear as a light or dark spot on the skin.
7. Cafe-au-Lait spots: Flat, light brown patches that can occur anywhere on the body and are often associated with other conditions such as neurofibromatosis type 1.
8. Mongolian spots: Bluish-gray patches that occur in people with darker skin tones and fade with age.
9. Poikiloderma of Civatte: A condition that causes red, thin, and wrinkled skin, often with a pigmentary mottling appearance.
10. Pigmented purpuric dermatosis: A rare condition that causes reddish-brown spots on the skin, often associated with other conditions such as lupus or vasculitis.

Pigmentation disorders can be difficult to treat and may require a combination of topical and systemic therapies, including medications, laser therapy, and chemical peels. It's essential to consult with a dermatologist for an accurate diagnosis and appropriate treatment plan.

Neuroblastoma is caused by a genetic mutation that affects the development and growth of nerve cells. The cancerous cells are often sensitive to chemotherapy, but they can be difficult to remove surgically because they are deeply embedded in the nervous system.

There are several different types of neuroblastoma, including:

1. Infantile neuroblastoma: This type of neuroblastoma occurs in children under the age of one and is often more aggressive than other types of the cancer.
2. Juvenile neuroblastoma: This type of neuroblastoma occurs in children between the ages of one and five and tends to be less aggressive than infantile neuroblastoma.
3. Adult neuroblastoma: This type of neuroblastoma occurs in adults and is rare.
4. Metastatic neuroblastoma: This type of neuroblastoma has spread to other parts of the body, such as the bones or liver.

Symptoms of neuroblastoma can vary depending on the location and size of the tumor, but they may include:

* Abdominal pain
* Fever
* Loss of appetite
* Weight loss
* Fatigue
* Bone pain
* Swelling in the abdomen or neck
* Constipation
* Increased heart rate

Diagnosis of neuroblastoma typically involves a combination of imaging tests, such as CT scans and MRI scans, and biopsies to confirm the presence of cancerous cells. Treatment for neuroblastoma usually involves a combination of chemotherapy, surgery, and radiation therapy. The prognosis for neuroblastoma varies depending on the type of cancer, the age of the child, and the stage of the disease. In general, the younger the child and the more aggressive the treatment, the better the prognosis.

The symptoms of oligodendroglioma can vary depending on the location and size of the tumor, but may include headaches, seizures, weakness or numbness in the arms or legs, and changes in personality or behavior.

Oligodendrogliomas are diagnosed through a combination of imaging tests such as MRI or CT scans, and tissue biopsy. Treatment options for oligodendroglioma can include surgery to remove the tumor, radiation therapy, and chemotherapy with drugs such as temozolomide.

Prognosis for oligodendroglioma depends on the location, size, and aggressiveness of the tumor, as well as the age and overall health of the patient. In general, benign oligodendrogliomas have a good prognosis, while malignant ones are more difficult to treat and can be associated with a poorer outcome.

There is ongoing research into new treatments for oligodendroglioma, including clinical trials of innovative drugs and therapies.

There are several subtypes of carcinoma, including:

1. Adenocarcinoma: This type of carcinoma originates in glandular cells, which produce fluids or mucus. Examples include breast cancer, prostate cancer, and colon cancer.
2. Squamous cell carcinoma: This type of carcinoma originates in squamous cells, which are found on the surface layers of skin and mucous membranes. Examples include head and neck cancers, cervical cancer, and anal cancer.
3. Basal cell carcinoma: This type of carcinoma originates in the deepest layer of skin, called the basal layer. It is the most common type of skin cancer and tends to grow slowly.
4. Neuroendocrine carcinoma: This type of carcinoma originates in cells that produce hormones and neurotransmitters. Examples include lung cancer, pancreatic cancer, and thyroid cancer.
5. Small cell carcinoma: This type of carcinoma is a highly aggressive form of lung cancer that spreads quickly to other parts of the body.

The signs and symptoms of carcinoma depend on the location and stage of the cancer. Some common symptoms include:

* A lump or mass
* Pain
* Skin changes, such as a new mole or a change in the color or texture of the skin
* Changes in bowel or bladder habits
* Abnormal bleeding

The diagnosis of carcinoma typically involves a combination of imaging tests, such as X-rays, CT scans, MRI scans, and PET scans, and a biopsy, which involves removing a small sample of tissue for examination under a microscope. Treatment options for carcinoma depend on the location and stage of the cancer and may include surgery, radiation therapy, chemotherapy, or a combination of these.

In conclusion, carcinoma is a type of cancer that originates in epithelial cells and can occur in various parts of the body. Early detection and treatment are important for improving outcomes.

References:

1. American Cancer Society. (2022). Carcinoma. Retrieved from
2. Mayo Clinic. (2022). Carcinoma. Retrieved from
3. MedlinePlus. (2022). Carcinoma. Retrieved from

Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 6: entries, gene ... The human leukocyte antigen lies on chromosome 6, with the exception of the gene for β2-microglobulin (which is located on ... The following is a partial list of genes on human chromosome 6. For complete list, see the link in the infobox on the right. ... The following are some of the genes located on p-arm (short arm) of human chromosome 6: ADTRP: encoding protein Androgen- ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 5 ... A ring chromosome occurs when both ends of a broken chromosome are reunited. G-banding ideograms of human chromosome 5 "Human ... "Chromosome 5: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 5: ... Chromosome 5 is the 5th largest human chromosome, yet has one of the lowest gene densities. This is partially explained by ...
For comparison, the diploid human genome has 20,000-25,000 genes (represented twice) on 23 chromosome pairs. There is a high ... Tandem repeats of trinucleotides are abundant in Dictyostelium, which in humans cause Trinucleotide repeat disorders. Sexual ... the human host of Legionella. The cytoskeletal composition of D. discoideum is similar to that of mammalian cells as are the ... 6 (7): e1001013. doi:10.1371/journal.pgen.1001013. PMC 2895654. PMID 20617172. O'Day DH, Keszei A (May 2012). "Signalling and ...
Humans have 23 pairs of chromosomes and other great apes have 24 pairs of chromosomes. In the human evolutionary lineage, two ... Human and chimpanzee chromosomes are very alike. The primary difference is that humans have one fewer pair of chromosomes than ... Wikiversity has learning resources about Chimpanzee Genome Project Human evolutionary genetics Human chromosome 2 Human Genome ... chromosome segment inversions on human chromosomes 1, 4, 5, 9, 12, 15, 16, 17, and 18. After the completion of the Human genome ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 4 ... "Chromosome 4: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 4: ... Goldfrank D, Schoenberger E, Gilbert F (2003). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 4 ... Wikimedia Commons has media related to Human chromosome 4. National Institutes of Health. "Chromosome 4". Genetics Home ...
The CDK6 gene is located on chromosome 7 in humans. The gene spans 231,706 base pairs and encodes a 326 amino acid protein with ... Genes on human chromosome 7, Cell cycle, Protein kinases, EC 2.7.11, Cell cycle regulators). ... CDK6 human gene location in the UCSC Genome Browser. CDK6 human gene details in the UCSC Genome Browser. Genecards UniProt ... Meyerson M, Enders GH, Wu CL, Su LK, Gorka C, Nelson C, Harlow E, Tsai LH (Aug 1992). "A family of human cdc2-related protein ...
The chromosome encodes 5,674 potential protein-coding open reading frames. This genome may have undergone numerous gene ... Strains of this species have been isolated from human brain abscesses. N. farcinica contains a 6 million base pair genome with ... Holm, P (July 1975). "Seven cases of human nocardiosis caused by Nocardia farcinica". Sabouraudia. 13 (2): 161-9. doi:10.1080/ ...
The ZNF337 gene is located on human chromosome 20 (20p11.21). Its protein contains 751 amino acids, has a 4,237 base pair mRNA ... CS1 errors: missing periodical, CS1 errors: missing title, CS1 errors: bare URL, Genes on human chromosome 20, Human proteins, ... 20-27 December 2001). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. Bibcode: ... The span of the ZNF337 gene (the start of transcription to the polyA site in base-pairs) is 4,237 base pairs (mRNA). The ZNF337 ...
The human gene TMEM8A is found on chromosome 16 at the band 16p13.3. The span of this gene on chromosome 16 spans from base ... pair 420,773 to 437,113 making this gene 16,340 base pairs in length. This gene is found on the minus strand of the chromosome ... Genes on human chromosome, Articles to be expanded from June 2013, All articles to be expanded, Articles with empty sections ... There are two paralogs for TMEM8A found in humans, C9orf127 and TMEM8C. Both of these paralogs are found on Chromosome 9. The ...
Portal: Biology v t e (Genes on human chromosome 7, EC 5.2.1, All stub articles, Isomerase stubs). ... FKBP6 is essential for homologous chromosome pairing in meiosis during spermatogenesis. Targeted inactivation of FKBP6 in mice ... 2003). "Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis". Science. 300 (5623): 1291-5. ... Mutations in this gene have been associated with male infertility in humans. FKBP6 is deleted in Williams syndrome, however ...
The human TMCO6 is found on chromosome 5 (position 5q31.3). The entire gene spans 5568 base pairs on the positive strand of ... CS1 errors: missing periodical, Articles with short description, Short description matches Wikidata, Genes on human chromosome ... 1,925 base pair mRNA sequence. Variant 2 is the second longest at 1,907 base pairs in length and also consists of 12 exons. ... Variant 3 has a total length of 1,614 base pairs and differs from variant 1 because it lacks two consecutive exons. It has an ...
Schäfer BW, Mattei MG (July 1993). "The human paired domain gene PAX7 (Hup1) maps to chromosome 1p35-1p36.2". Genomics. 17 (1 ... Paired box protein Pax-7 is a protein that in humans is encoded by the PAX7 gene. Pax-7 plays a role in neural crest ... "PAX7 - Paired box protein Pax-7 - Homo sapiens (Human) - PAX7 gene & protein". Aloisio, Gina M.; Nakada, Yuji; Saatcioglu, ... Pilz AJ, Povey S, Gruss P, Abbott CM (March 1993). "Mapping of the human homologs of the murine paired-box-containing genes". ...
... is a human protein that is encoded by the C3orf30 gene located on the forward strand of human chromosome three, open reading ... The mRNA of TEX55 is 1800 base pairs long and has three exons. According to GeneCard, the TEX55 mRNA has 3 theoretical splice ... Expression of TEX55 mRNA can be found in most tissues in the human body, from the brain to the prostate. However, the protein ... Analysis done by the Human Protein Atlas indicates that the TEX55 protein can be found not only in the testis, but also the ...
The gene C1orf74 is a protein-encoding gene on chromosome 1 in humans. It is also known as URLC4 in humans. The locus of this ... C1orf74 is 2229 base pairs long. The gene contains two exons. C1orf74 is downstream of the gene interferon regulatory factor 6 ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 1, Human proteins, ... "C1orf74 chromosome 1 open reading frame 74 [Homo sapiens (human)]". NCBI Gene. NCBI. Retrieved 8 May 2015. "Homo sapiens ...
Human PTCHD4 is located on the negative strand of chromosome 6, at 6p12.3. From there, it covers 190,350 base pairs, which ... "The Human Protein Atlas". The Human Protein Atlas. Retrieved May 15, 2015. "CBS Prediction Servers". TMHMM. Retrieved May 15, ... "The Human Gene Compendium". Gene Cards. Retrieved May 15, 2015. "National Center for Biotechnology". NCBI. Retrieved May 15, ... Sequenced distant orthologs of human PTCHD4 have been found as far back in evolution as mold, which shows a conservation of 16 ...
The gene is located on chromosome 19 at p13.3 on the forward strand. The gene is 4041 base pairs in length and contains 29 ... ANKRD24 has no human paralogs. Orthologous proteins are found in other organisms. The following table represents some of the ... Ankyrin repeat domain-containing protein 24 is a protein in humans that is coded for by the ANKRD24 gene. The gene is also ... The protein's function in humans is currently unknown. ANKRD24 is in the protein family that contains ankyrin-repeat domains. ...
Chromosome 4 open reading frame 51 (C4orf51) is a protein which in humans is encoded by the C4orf51 gene. The C4orf51 gene is ... GXP_921944 spans 1910 base pairs on chromosome 4. There are 15 coding transcripts supporting this promoter, but none are ... "C4orf51 chromosome 4 open reading frame 51 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2019-05-06. " ... "C4orf51 chromosome 4 open reading frame 51 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2019-04-21. ...
In humans, aldolase B is encoded by the ALDOB gene located on chromosome 9. The gene is 14,500 base pairs long and contains 9 ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 9, CS1: long volume value, ... 1988). "Human aldolase B gene: characterization of the genomic aldolase B gene and analysis of sequences required for multiple ... Ali M, Sebastio G, Cox TM (1994). "Identification of a novel mutation (Leu 256→Pro) in the human aldolase B gene associated ...
... is located on the X chromosome at locus Xq13.1. It is 1,831 base pairs long and the gene sequence has 6 exons. ... LOC101059915 is a protein, which in humans is encoded by the LOC101059915 gene. It is located on the X chromosome and has ... Protein BLAST (Articles with short description, Short description matches Wikidata, Genes on human chromosome X, Genes, ... and between base pair 71666098 and 71667904 on the X chromosome. It spans up to 1.806 bp. Expression of LOC101059915, however, ...
... is a protein that in humans is encoded by the LRRN3 gene. The LRRN3 is located on human chromosome 7, at 7q31.1. It contains 6 ... with the longest transcript variant being 3744 base pairs in length. All three of these transcript variants have differing ... Gene Expression data has shown that the LRRN3 gene is expressed at very high levels in humans, about 2.3 times the average gene ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Mouse PubMed ...
The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell ... The genome is organized into 22 paired chromosomes, termed autosomes, plus the 23rd pair of sex chromosomes (XX) in the female ... when the X chromosome is included, and 2 963 015 935 base pairs when the Y chromosome is substituted for the X chromosome. ... The human Y chromosome, consisting of 62,460,029 base pairs from a different cell line and found in all males, was sequenced ...
Genes on human chromosome 1, All articles with unsourced statements, Articles with unsourced statements from January 2021, ... The mouse gene has two exons (100 and 1064 nucleotides in length), separated by a 461 base pair intron. In the mouse DARC is ... is located on the long arm of chromosome 1 (1.q22-1.q23) and was cloned in 1993. The gene was first localised to chromosome 1 ... DARC+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) Duffy at BGMUT Blood Group Antigen ...
In humans, lactoferrin gene LTF is located on the third chromosome in the locus 3q21-q23. In oxen, the coding sequence consists ... insertions and mutations of stop codons affect the coding part and its length varies between 2,055 and 2,190 nucleotide pairs. ... CS1: long volume value, Articles with short description, Short description matches Wikidata, Genes on human chromosome 3, ... Human colostrum ("first milk") has the highest concentration, followed by human milk, then cow milk (150 mg/L). Lactoferrin is ...
This gene is found on the plus strand of chromosome 17 at locus 17q11.2. It spans from base pairs 31,254,928 to 31,272,124. ... CS1 errors: missing periodical, Genes on human chromosome 17). ... This missing region corresponds to 85 base pairs near the end ... "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome ... Transmembrane protein 98 is a single-pass membrane protein that in humans is encoded by the TMEM98 gene. The function of this ...
In a common situation a human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 CNVs one chromosome ... Meiosis is the process of dividing cells in humans. In meiosis, the chromosome pairs splits and a representative of each pair ... In this way the number of chromosomes will be halved in each cell, while all the parts on the chromosome (genes) remain, after ... 1q21.1 copy number variations (CNVs) are rare aberrations of human chromosome 1. ...
The human genome's GC content is about 41%. Accounting for the autosomal, X, and Y chromosomes, human haploid GC contents are ... However, the base pairs of the XX female zygote are distributed among 2 homologous groups of 23 heterologous chromosomes each, ... The X gamete contains an X chromosome, while the Y gamete contains a Y chromosome. The larger size of the X chromosome is ... Although each zygote has 46 chromosomes, 23 chromosomes of the XX female zygote are heterologous while 24 chromosomes of the XY ...
Genes on human chromosome 6). ... The tmem242 gene is 35,238 base pairs long, and the protein is ... The tmem242 gene is located on chromosome 6, on the long arm, in band 2 section 5.3. This protein is also commonly called ... There are ubiquitous basal level expression of tmem242 in all tissues in human and mouse. There are other tissues with increase ... "Entrez Gene: chromosome 6 open reading frame 35". "transmembrane protein 242 [Homo sapiens]". Protein - NCBI. National Center ...
The human TBR1 gene is located on the q arm of the positive strand of chromosome 2. It is 8,954 base pairs in length. TBR1 is ... Articles with short description, Short description is different from Wikidata, Good articles, Genes on human chromosome 2, ... "Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins". ... Orthologs of the human TBR1 gene have been identified in chimpanzee, dog, cow, rat, mouse, and zebrafish. In mice, TBR1 has ...
In humans, the gene is 51,558 base pairs long. The transcript that produces the longest protein of 140 amino acids is ... "GeneCards: The Human Gene Compendium". Retrieved 8 February 2015. "Homo sapiens chromosome 6 open reading frame 201 (C6orf201) ... Genes on human chromosome 6, Commons category link is on Wikidata, Human proteins, Uncharacterized proteins). ... October 2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805-11. Bibcode:2003Natur.425..805M. ...
The repeats are normally a few hundred base pairs in length. These sequences constitute about 13% of the human genome with the ... The repeats are normally several thousand base pairs in length. These sequences constitute about 21% of the human genome. Both ... Eukaryotic chromosome fine structure refers to the structure of sequences for eukaryotic chromosomes. Some fine sequences are ... They may also be involved in fillers for increasing chromosome size to some minimum threshold level necessary for chromosome ...
In humans, the gene that codes for this enzyme is located on the long arm of chromosome 3 (3q13). This bifunctional enzyme has ... In Salmonella typhimurium, a new pair of antiparallel β-sheets is created and five new interatomic contacts are formed in the ... Portal: Biology (Genes on human chromosome 3, EC 4.1.1, EC 2.4.2). ... "Localization of the gene for uridine monophosphate synthase to human chromosome region 3q13 by in situ hybridization". Genomics ...
... is caused by mutations in both copies of the CENPF gene, located on the long arm of chromosome 1. CENPF codes ... They are made by the centrosome, which contains a pair of cylindrical centrioles at right-angles to each other. Before division ... Badano JL, Mitsuma N, Beales PL, Katsanis N (1 September 2006). "The ciliopathies: an emerging class of human genetic disorders ... Filges I, Stromme P (January 2020). "CUGC for Stromme syndrome and CENPF-related disorders". European Journal of Human Genetics ...
Odz1 to Mouse Chromosome 11; and ODZ3 to Human Chromosome Xq25". Genomics. 58 (1): 102-3. doi:10.1006/geno.1999.5798. PMID ... Levine A, Bashan-Ahrend A, Budai-Hadrian O, Gartenberg D, Menasherow S, Wides R (May 1994). "odd Oz: A novel Drosophila pair ... Odz1to Mouse Chromosome 11; and ODZ3 to Human Chromosome Xq25". Genomics. 58 (1): 102-103. doi:10.1006/geno.1999.5798. PMID ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 4). ...
number of base pairs = mass in pg × 9.78 × 10 8 {\displaystyle {\text{number of base pairs}}={\text{mass in pg}}\times 9.78\ ... These species have become a considerable threat to human health, as they are often capable of evading human immune systems and ... I. DNA-content and chromosome sets in various species of Cyprinidae". Humangenetik. 7 (3): 240-244. doi:10.1007/BF00273173. ... or as the total number of nucleotide base pairs, usually in megabases (millions of base pairs, abbreviated Mb or Mbp). One ...
It has 2 pairs of petals, 3 large sepals (outer petals), known as the 'falls' and 3 inner, smaller petals (or tepals, known as ... It has a chromosome count: 2n=20. It was also counted as 2n=22, 44 by (Zahareva and Makeushenko 1968) and (Fedorov 1969). It is ... Some of these compounds had some antioxidant activity in certain cells and some effected yeast cells expressing human estrogen ... As most irises are diploid, having two sets of chromosomes. This can be used to identify hybrids and classification of ...
"Gene promoters show chromosome-specificity and reveal chromosome territories in humans". BMC Genomics. 14 (278): 278. doi: ... These pairs of promoters can be positioned in divergent, tandem, and convergent directions. They can also be regulated by ... Furthermore, in humans, promoters show certain structural features characteristic for each chromosome. In bacteria, the ... "Prevalence of the initiator over the TATA box in human and yeast genes and identification of DNA motifs enriched in human TATA- ...
"Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724-731. Bibcode:2005Natur. ... FAM178B spans 110,720 base pairs, and contains 827 amino acids. There are two isoforms of the gene transcript that exist by ... FAM178B is a protein coding that is located on the plus strand of chromosome 2. The locus for the gene is 2q11.2. It is also ... "Human BLAT Search". genome.ucsc.edu. Retrieved 2019-04-21. "TimeTree :: The Timescale of Life". www.timetree.org. Retrieved ...
This sequencing revealed that the human mtDNA includes 16,569 base pairs and encodes 13 proteins. Since animal mtDNA evolves ... Medusozoa and calcarea clades however have species with linear mitochondrial chromosomes. In terms of base pairs, the anemone ... HVR1, for example, consists of about 440 base pairs. These 440 base pairs are compared to the same regions of other individuals ... Human mitochondrial DNA was the first significant part of the human genome to be sequenced. ...
"The SON gene encodes a conserved DNA binding protein mapping to human chromosome 21". Annals of Human Genetics. 58 (1): 25-34. ... Many individuals with ZTTK syndrome have identified heterozygosity for a de novo 4-base pair deletion, de novo mutation in exon ... and CRF2-4 genes cluster on human Chromosome 21 and mouse Chromosome 16". Mammalian Genome. 4 (6): 338-342. doi:10.1007/ ... Human embryonic stem cells (hESCs) are able to undergo lineage-specific differentiation into specific types of cells, known as ...
During the process of mitosis the pairs of chromosomes condense and attach to microtubules that pull the sister chromatids to ... Many human cancers possess the hyper-activated Cdk 4/6 activities. Given the observations of cyclin D-Cdk 4/6 functions, ... Cell Cycle, Chromosomes and Cancer. Vol. 15. Miami Beach, FL: University of Miami School of Medicine. Alter O, Golub GH ( ... In this checkpoint, the cell checks to ensure that the spindle has formed and that all of the chromosomes are aligned at the ...
For this sample, a better estimate would be that 95% of the base pairs are exactly shared between chimpanzee and human DNA." ... April 2015). "A recent bottleneck of Y chromosome diversity coincides with a global change in culture". Genome Research. 25 (4 ... Evolutionary biology portal Evolution of human intelligence Graphical timeline of the universe Human evolution Recent human ... The timeline of human evolution outlines the major events in the evolutionary lineage of the modern human species, Homo sapiens ...
The paper examined the global distribution of SINEs in mouse and human chromosomes and determined that this distribution was ... SINEs have 50-500 base pair internal regions which contain a tRNA-derived segment with A and B boxes that serve as an internal ... often leading to disease phenotypes in humans and other animals. Insertion of Alu elements in the human genome is associated ... There are >50 human diseases associated with SINEs. When inserted near or within the exon, SINEs can cause improper splicing, ...
There are no known paralogs of this gene in humans. "C17orf78 chromosome 17 open reading frame 78 [Homo sapiens (human)] - Gene ... Isoform 1 is encoded by a mRNA sequence that is 1920 base pairs in length. Isoform 2 derives from a mRNA sequence of 1678 base ... The name denotes the location of the parent gene, being at the 78th open reading frame, on the 17th human chromosome. The ... C17orf78 (Chromosome 17 Open Reading Frame 78) is found on the long arm cytogenetic band 17q12. The genomic sequence spans from ...
The human LECT2 gene, LECT2, is located on the long, i.e, "q", arm of chromosome 5 at position q31.1 (notated as 5q31.1). This ... Human LECT2 is composed of 4 exons, 3 introns, and ~8,000 base pairs. The gene has numerous single nucleotide variants as well ... 2004). "The DNA sequence and comparative analysis of human chromosome 5". Nature. 431 (7006): 268-74. doi:10.1038/nature02919. ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 5). ...
In humans, histone H2B is coded for by twenty-three different genes, none of which contain introns. All of these genes are ... It plays an important role in the biology of the nucleus where it is involved in the packaging and maintaining of chromosomes, ... DNA is then wrapped around the entire nucleosome in groups of approximately 160 base pairs of DNA. The wrapping continues until ... There are sixteen variants of histone H2B found in humans, thirteen of which are expressed in regular body cells and three of ...
Genes on human chromosome 17, Keratins, All stub articles, Human chromosome 17 gene stubs). ... Keratin 16 is a protein that in humans is encoded by the KRT16 gene. Keratin 16 is a type I cytokeratin. It is paired with ... "A group of type I keratin genes on human chromosome 17: characterization and expression". Mol. Cell. Biol. 8 (2): 722-36. doi: ... "Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12". Cytogenet. Cell Genet. 57 (1): 33- ...
By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... By analogy, the term is used in human reproduction, but more commonly refers to the genetic disorders and other consequences ... Thus, the likelihood of deleterious recessive alleles to pair is significantly higher in a small inbreeding population than in ... ISBN 978-3-540-37654-5. Ober C, Hyslop T, Hauck WW (January 1999). "Inbreeding effects on fertility in humans: evidence for ...
Genes on human chromosome 2, Protein pages needing a picture, Genes on human chromosome 15, Genes on human chromosome 20, Genes ... The lone pair of electrons moves down kicking off the lone pairs that were making the double bond. This lone pair of electrons ... Mtb ICDH-1 is most structurally similar to the R132H mutant human ICDH found in glioblastomas. Similar to human R132H ICDH, Mtb ... In humans, IDH exists in three isoforms: IDH3 catalyzes the third step of the citric acid cycle while converting NAD+ to NADH ...
The two pairs of membranous wings are held together by small hooks and the forewings are larger than the hind ones; in some ... Males, called drones, have a haploid (n) number of chromosomes and develop from an unfertilized egg. Wasps store sperm inside ... the existing workers search for sugary foods and are more likely to come into contact with humans. Wasp nests made in or near ... Females are diploid, meaning that they have 2n chromosomes and develop from fertilized eggs. ...
Genes on human chromosome 3, Protein pages needing a picture, Human gene pages with Wikidata item). ... C3orf62 starts at 49,268,597 base pairs from the terminus of the short arm (pter) and ending at 49,277,909 base pairs pter. ... Chromosome 3 Open Reading Frame 62 (C3orf62), is a protein that in humans is encoded by the C3orf62 gene. C3orf62 is a glycine ... C3orf62 human protein (Q6ZUJ4) is 267 amino acids long, and has a molecular mass of 30,194 Daltons. The isoelectric point of ...
This breakthrough helped further relate OCD in humans to CCD in canines. Canine chromosome 7 is expressed in the hippocampus of ... Rats became significantly more tolerant to morphine when they had been exposed to a paired administration than those rats that ... A chromosome has been located in dogs that confers a high risk of susceptibility to OCD. Canine chromosome 7 has been found to ... It can be difficult to attribute human conditions to non-human animals. Obsessive-compulsive behavior in animals, often called ...
The haplotype begins before the TRIM27 locus approximately 28.8 million nucleotides from the telomere of chromosome 6's shorter ... CS1 French-language sources (fr), CS1 German-language sources (de), Human MHC haplogroups, Human MHC mediated diseases, Human ... 1 million base pairs centromeric from DQ2.5 may also be associated with Type 1 diabetes. In addition the BAT1 and MICB variant ... These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ...
These paired genes that control the same trait is classified as an allele. In an individual, the allelic genes that are ... Genes are a fundamental part of DNA that is aligned linearly on a eukaryotic chromosome. Chemical information that is ... human genetics, medical genetics, and much more. Thus, reinforcing Mendel's nickname as the father of modern genetics. In other ... Many pairs of alleles have differing effects that are portrayed in an offspring's phenotype and genotype. The phenotype is a ...
Because RPS6KA3 is located on the X chromosome, males (who possess only one copy of the X chromosome) display more severe ... In 2002, Helen Fryssira and RJ Simensen identified a 3 base pair deletion in the gene encoding RSK2, which was the first report ... "Coffin-Lowry syndrome". European Journal of Human Genetics 18, 627-633 (2010). doi:10.1038/ejhg.2009.189 Rogers RC, Abidi FE. ... A condition is considered X-linked if the gene that causes the disorder is located on the X chromosome (one of the two sex ...
v t e (Genes on human chromosome 13, Collagens, All stub articles, Human chromosome 13 gene stubs). ... this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common ... Collagen alpha-2(IV) chain is a protein that in humans is encoded by the COL4A2 gene. This gene encodes one of the six subunits ... Pöschl E, Pollner R, Kühn K (1988). "The genes for the alpha 1(IV) and alpha 2(IV) chains of human basement membrane collagen ...
For example, probes may be designed to target various regions of chromosome 21 of a human cell. The signal strengths of the ... Pairs of probes are hybridized to the sample DNA, with each probe pair designed to query for the presence of a particular DNA ... to give the PCR product a unique length when compared to other probe pairs in the MLPA assay. Each complete probe pair must ... Although dosage quotients may be calculated for any pair of amplicons, it is usually the case that one of the pair is an ...
Weak identity between chromosomes results in meiotic pairing that yields only two possible genotypes of sperm, X1X2X3X4X5 or ... This similarity to primates and humans allows it to see distant objects clearly. Unlike placental mammals, including humans, ... for humans. This part of the brain in humans is thought to be used for planning and analytical behaviour, leading to debate as ... in which males have four Y chromosomes and five X chromosomes. Males appear to be X1Y1X2Y2X3Y3X4Y4X5 (figure), while females ...
For example, in humans, females (XX) silence the transcription of one X chromosome of each pair, and transcribe all information ... of the Y chromosome during meiosis. Additionally, 10-25% of human X chromosome genes, and 3-7% of mouse X chromosome genes ... Specifically, platypus X1 shares homology with the chicken Z chromosome, and both share homology with the human chromosome 9. ... smaller W chromosome. Instead of silencing the entire chromosome as humans do, male chickens (the model ZZ organism) seem to ...
Since each centrosome has a K fiber connecting to each pair of chromosomes, the chromosomes become tethered in the middle of ... "The Human Protein Atlas". www.proteinatlas.org. Archived from the original on 2017-05-01. Retrieved 2017-04-27. Hirokawa N, ... As the K fibers shorten the pair chromosomes are pulled apart right before cytokinesis. Previously, some researchers believed ... For example, +TIPs have been observed to participate in the interactions of microtubules with chromosomes during mitosis. The ...
Genes on human chromosome 6, Human gene pages with Wikidata item, Non-coding RNA). ... 7SK in cells is associated with a number of proteins and probing of the secondary structure suggested a model for base pairing ... Human 7SK genome location and 7SK gene details page in the UCSC Genome Browser. Human RN7SK genome location and RN7SK gene ... The 7SK snRNP has been characterized in both human and Drosophila. Detailed review. Diribarne G, Bensaude O (2009). "7SK RNA, a ...
Chromosomes, Human, Pair 6. Chromosome Mapping Archival Collection: The Victor A. McKusick Papers (Profiles in Science) 2. ... Chromosomes, Human, Pair 6. Chromosome Mapping Archival Collection: The Victor A. McKusick Papers (Profiles in Science) 3. ... Chromosomes, Human, Pair 6. Chromosome Mapping Archival Collection: The Victor A. McKusick Papers (Profiles in Science) 4. ... Chromosomes, Human, Pair 6. Chromosome Mapping Archival Collection: The Victor A. McKusick Papers (Profiles in Science) ...
Human, Pair 7[MAJR]) AND (Chromosome 7[TI]) AND english[la] AND human[mh] AND last 1440 days[dp] - Search Results - PubMed ... Chromosomes, Human, Pair 7[MAJR]) AND (Chromosome 7[TI]) AND english[la] AND human[mh] AND last 1440 days[dp]. ... Discovery of a MUC3B gene reconstructs the membrane mucin gene cluster on human chromosome 7. Lang T, Pelaseyed T. Lang T, et ... Human telomerase RNA component (hTERC) gene expression and chromosome 7 ploidy correlate positively with histological grade of ...
Her chromosome constitution was 46,XX, t (6;9) (q27;q22.1), dup (9) (q21.2q22.1). This de novo interstitial duplication was ... Chromosomes, Human, Pair 9* * Face / abnormalities* * Female * Gene Duplication* * Humans * In Situ Hybridization, Fluorescence ... Her chromosome constitution was 46,XX, t (6;9) (q27;q22.1), dup (9) (q21.2q22.1). This de novo interstitial duplication was ... This is the second report of a patient with an interstitial duplication of this region of the long arm of chromosome 9. It is ...
File:Human chromosome 06 - 400 550 850 bphs.png. G-banding patterns of human chromosome 6 in three different resolutions (400,[ ... Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e. ... G-bands of human chromosome 6 in resolution 850 bphs[19] Chr. Arm[20] Band[21] ISCN. start[22] ISCN. stop[22] Basepair. start ... "Human Genome Project Information Archive 1990-2003. Retrieved 2017-05-06.. *"Chromosome 6 Research Project". Parent-driven ...
MeSH Terms: Chromosome Mapping; Chromosomes, Human, Pair 6*; Family Health; Genetic Linkage; Genetic Markers; Genetic ... NIEHS research uses state-of-the-art science and technology to investigate the interplay between environmental exposures, human ... Title: A major lung cancer susceptibility locus maps to chromosome 6q23-25. ... Predisposition to Disease*; Genome, Human; Genotype; Humans; Lod Score; Lung Neoplasms/genetics* ...
Chromosomes, Human, Pair 6 Actions. * Search in PubMed * Search in MeSH * Add to Search ... Affected members of Family 1 shared a single 22.4-Mb region of homozygosity on chromosome 6 and had a homozygous nonsense ... NT5E mutations that cause human disease are associated with intracellular mistrafficking of NT5E protein. Fausther M, Lavoie EG ... The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). ...
... human organ systems, botany, zoology and other topics ... There are 23 pairs of chromosomes in each human cell.. 6. The ... 5. The number of chromosomes in a human cell is _______.. 2 4 23 46. ... 7. During which stage of mitosis do chromatids separate to form two sets of daughter chromosomes?. Telophase Prophase ... During which stage of mitosis does longitudinal splitting of the chromosomes occur?. Prophase Telophase Metaphase Anaphase. ...
... diffusion tension imaging of the human brain (courtesy of Thomas Schultz, University of Chicago); (5) chromosome pairs; (6) ... CHE-0554275, the Department of Health and Human Services under Award No. N01-OD-4-2139, the Burroughs Wellcome Fund under Award ... 6 Enabling Research at the Intersection: Promoting Training, Support, and Communication Across Disciplines 69-90 ... 6) Department of Energy BER-funded neutron Protein Crystallography Station at LANL; (7) James E. Hayden, Wistar Institute, ...
Chromosome 4 spans about 191 million DNA building blocks (nucleotides) and represents more than 6 percent of the total DNA in ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 4, one copy inherited from ... Ensembl Human Map View. *Goldfrank D, Schoenberger E, Gilbert F. Disease genes and chromosomes: disease maps of the human ... Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a ...
... base pairs) and represents between 5.5 and 6 percent of the total DNA in cells. Learn about health implications of genetic ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 6, one copy inherited from ... Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a ... Ensembl Human Map View: Chromosome 6. *Gilbert F. Chromosome 6. Genet Test. 2002 Winter;6(4):341-58. doi: 10.1089/ ...
1. Philadelphia chromosome in relapsed childhood acute lymphoblastic leukemia: a matched-pair analysis. Berlin-Frankfurt- ... Molecular Biopsy of Human Tumors. - a resource for Precision Medicine *. 147 related articles for article (PubMed ID: 9196135) ... 8. Philadelphia chromosome-positive acute lymphoblastic leukemia.. Lestingi TM; Hooberman AL. Hematol Oncol Clin North Am; 1993 ... Philadelphia chromosome-positive (Ph+) childhood acute lymphoblastic leukemia: good initial steroid response allows early ...
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5). ... Human, Pair 5" by people in this website by year, and whether "Chromosomes, Human, Pair 5" was a major or minor topic of these ... "Chromosomes, Human, Pair 5" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 5" by people in Profiles. ...
A specific pair GROUP C CHROMSOMES of the human chromosome classification.. Terms. Chromosomes, Human, Pair 6 Preferred Term ... Chromosomes [A11.284.187] * Chromosomes, Mammalian [A11.284.187.520] * Chromosomes, Human [A11.284.187.520.300] * Chromosomes, ... Chromosomes [G05.360.162] * Chromosomes, Mammalian [G05.360.162.520] * Chromosomes, Human [G05.360.162.520.300] * Chromosomes, ... A specific pair GROUP C CHROMSOMES of the human chromosome classification.. Entry Term(s). Chromosome 6 Previous Indexing. ...
We noted in both populations that primer pair 1 sometimes amplified a region of human genomic DNA from chromosome 6 (GQ497714 ... followed by pair 7 (n = 40), pair 5 (n = 36), and pair 8 (n = 31). Most notably, primer pair 7 performed better than it had in ... Distribution of human rhinovirus (HRV) and human enterovirus (HEV) sequences used for primer pair studies. The HRV and HEV ... Distribution of human rhinovirus (HRV) and human enterovirus (HEV) sequences used for primer pair studies. The HRV and HEV ...
As noted, SNPs are very common in human DNA. Any two random chromosomes differ at about 1 in 1000 bases. For any particular ... only half or fewer of random pairs of chromosome differ at that site. Thus, there are actually more sites that are polymorphic ... Human Subjects Issues Associated with SNP Discovery. Recently it has become evident that human subjects issues are raised by ... Completion of the first human DNA sequence, through the efforts of the Human Genome Project (HGP), is expected by 2005. While ...
Human, Pair 7 A11.284.187.520.300.325.340 Chromosomes, Human, Pair 8 A11.284.187.520.300.325.345 Chromosomes, Human, Pair 9 ... Human, Pair 10 A11.284.187.520.300.325.355 Chromosomes, Human, Pair 11 A11.284.187.520.300.325.360 Chromosomes, Human, Pair 12 ... Human, Pair 13 A11.284.187.520.300.370.380 Chromosomes, Human, Pair 14 A11.284.187.520.300.370.385 Chromosomes, Human, Pair 15 ... Human, Pair 16 A11.284.187.520.300.415.425 Chromosomes, Human, Pair 17 A11.284.187.520.300.415.430 Chromosomes, Human, Pair 18 ...
6 hearings, former White House Counsel Pat Cipollone has been described as trying to control the fire that Trump set. He is to ... Boggs 64-question test for Cipollone included questions like "How many chromosome pairs are there in a human genome?" and " ... 6 insurrection. "Our evidence shows that Mr. Cipollone and his office tried to do what was right. They tried to stop a number ...
Our results indicate that chromosome 17q could contain a susceptibility locus for human hypertension and show that comparative ... Affected sib-pair analysis and parametric analysis with ascertainment correction gave significant evidence of linkage ( P , ... loci has been mapped to rat chromosome 10 and we have undertaken an investigation of the homologous region on human chromosome ... but their relationship to human hypertension has not been extensively investigated. One of the principal blood pressure ...
Find symptoms and other information about Class I glucose-6-phosphate dehydrogenase deficiency. ... DNA is found in the nucleus of a cell and, in humans, is packaged into 23 pairs of chromosomes with the help of special ... Data from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a diseases symptoms, genes, ... Kohler S, Gargano M, Matentzoglu N, et al., The Human Phenotype Ontology in 2021 , Nucleic Acids Research, Volume 49, Issue D1 ...
Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions. Nature 2008, 453, 948-951. [Google ... About 65% of such chromatin domains correspond to chromatin loops, the vast majority of which involves a pair of convergent ... The human and mouse genomes are composed of more than 2000 TADs having a median size lower than 1 Mb and covering, altogether, ... The first 4C (Chromosome Conformation Capture on ChIP) experiments, that evaluated for a given region all contacts occurring ...
Chromosomes, Human, Pair 6 - Preferred Concept UI. M0004435. Scope note. A specific pair GROUP C CHROMSOMES of the human ... A specific pair GROUP C CHROMSOMES of the human chromosome classification.. Allowable Qualifiers:. CH chemistry. CL ... Chromosomes, Human, Pair 9 [A11.284.187.520.300.325.345] Chromosomes, Human, Pair 9 ... Chromosomes, Human, Pair 9 [G05.360.162.520.300.325.345] Chromosomes, Human, Pair 9 ...
A specific pair GROUP C CHROMSOMES of the human chromosome classification.. Terms. Chromosomes, Human, Pair 6 Preferred Term ... Chromosomes [A11.284.187] * Chromosomes, Mammalian [A11.284.187.520] * Chromosomes, Human [A11.284.187.520.300] * Chromosomes, ... Chromosomes [G05.360.162] * Chromosomes, Mammalian [G05.360.162.520] * Chromosomes, Human [G05.360.162.520.300] * Chromosomes, ... A specific pair GROUP C CHROMSOMES of the human chromosome classification.. Entry Term(s). Chromosome 6 Previous Indexing. ...
This is a "connection" page, showing publications Peter Christian Warnke has written about Chromosomes, Human, Pair 17. ...
Human Karyotype #1 (questions #1-6) fr , 水 MI !!! 18 1. There are 46 chro - StudyX ... 9. There are 23 homologous pairs of chromosomes. 10. There are no trisomies in this karyotype. 11. The sex is male for this ... ade ?? 20 Human Karyotype #2 (Questions #7-12) H: 7. The diploid number is 46. 8. The haploid number is 23 only. 9. There are ... There are more than 46 Chromosomes inthis person because each set has more than 2 Chromosomes i.e., 3 Chromosomes, msking the ...
Chromosomes, Human, Pair 4 100% * Alcoholism 90% * Genome 67% * Phenotype 59% * Alcohol Dehydrogenase 31% ... Province, M. A., 2001, In: American journal of human genetics. 69, 3, p. 660-663 4 p.. Research output: Contribution to journal ... The third Georgia Tech-Emory International Conference on Bioinformatics - In silico biology: Bioinformatics after the human ... Human heredity. 52, 4, p. 223-232 10 p.. Research output: Contribution to journal › Article › peer-review ...
Chromosomes, Human, Pair 12 8% * Asian Americans 7% * Nicotine 6% * Smoke 5% ...
  • The human leukocyte antigen lies on chromosome 6, with the exception of the gene for β2-microglobulin (which is located on chromosome 15 ), and encodes cell-surface antigen -presenting proteins among other functions. (wikidoc.org)
  • Three regions on chromosomes 6 (human leukocyte antigen region), 10 (SFTPD gene) and 16 (ATP2C2 gene) were associated with serum SP-D levels at genome-wide significance. (johnshopkins.edu)
  • Over time, mutations also happen, meaning that parts of the chromosome are not identical to the same parts on the DNA of the parents. (gramps-project.org)
  • One of the two identical parts of the chromosome after S phase. (newworldencyclopedia.org)
  • Chromosome 6 spans more than 170 million base pairs (the building material of DNA ) and represents between 5.5 and 6% of the total DNA in cells . (wikidoc.org)
  • Chromosome 6 spans about 171 million DNA building blocks (base pairs) and represents between 5.5 and 6 percent of the total DNA in cells. (medlineplus.gov)
  • Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction ). (wikidoc.org)
  • So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikidoc.org)
  • Gene targeting--homologous recombination of DNA sequences residing in the chromosome with newly introduced DNA sequences--in mouse embryo-derived stem cells promises to provide a means to generate mice of any desired genotype. (utah.edu)
  • The gene encoding ZUD maps to human chromosome 6, which contains 170million base pairs and comprises nearly 6% of the human genome. (biospraysehatalami.com)
  • Mutations in the chromosome pairing gene FKBP6 are not a common cause of non-obstructive azoospermia. (cdc.gov)
  • [ 4 , 5 , 6 ] Moreover, genetic analysis using polymerase chain reaction-based tests has shown that this autosomal dominant anomaly has been associated with a recurrent 17 bp duplication on the 3( PITX3 ) gene on chromosome 10. (medscape.com)
  • 11 SNPs exceeded genome-wide significance with the strongest association with rs12913832 SNP on chromosome 15, mapping to HERC2 gene (p=6.94x10-14). (cdc.gov)
  • Despite of the extraordinary importance that all new knowledge on human genetics will have in dental clinics, little efforts have been made to prepare undergraduates in relation to this new information and technology. (bvsalud.org)
  • This extra chromosome causes severe developmental problems, and most Trisomy 18 pregnancies will end in miscarriage. (thetech.org)
  • When something like this happens, a person passes an extra chromosome onto their baby, and the baby will have 3 copies of that chromosome, or a trisomy. (thetech.org)
  • Down syndrome (DS) is the most common genetic disorder, resulting from an extra chromosome in pair 21. (bvsalud.org)
  • Introduction: The Human Genome Project (HGP) has allowed for advances in diagnosis and prevention of diseases. (bvsalud.org)
  • The Human Genome Project (HGP) started in the United States of America aiming at sequencing and mapping the human genetic code. (bvsalud.org)
  • In 2003, the sequencing of almost all human genome (HG) was announced. (bvsalud.org)
  • We find that the highly similar MBD2 and MBD3 proteins are encoded by genes that map to different chromosomes in humans and mice but show a similar genomic structure. (nih.gov)
  • Additionally, Porphyria cutanea tarda, Parkinson's disease, Sticklersyndrome and a susceptibility to bipolar disorder are all associated with genes that map tochromosome 6. (biospraysehatalami.com)
  • Public and animal health controls to limit human exposure to animal prions are focused on bovine spongiform encephalopathy (BSE), but other prion strains in ruminants may also have zoonotic potential. (cdc.gov)
  • It might thus be assumed that the " B ea v er L eukocidin (BVL, lukF/S -BV)"-positive strains are beaver-specific pathogens, and further studies on their clinical role as well as on a possible transmissibility to other species, including humans, are warranted. (nature.com)
  • Two copies of chromosome 6, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 6. (medlineplus.gov)
  • In paternal UPD, people inherit both copies of the affected chromosome from their father instead of one copy from each parent. (medlineplus.gov)
  • Trisomy 18 means that a person has three copies of chromosome number 18, instead of two (the "tri" in "trisomy" indicates a third chromosome). (thetech.org)
  • This means that one cell now has an extra copy of the chromosome, while the other cell has no copies. (thetech.org)
  • Two copies of the DNA molecule are now present) (5) Chromosome during metaphase. (newworldencyclopedia.org)
  • In 2003, the entirety of chromosome 6 was manually annotated for proteins, resulting in the identification of 1,557 genes, and 633 pseudogenes . (wikidoc.org)
  • Chromosome 6 likely contains 1,000 to 1,100 genes that provide instructions for making proteins. (medlineplus.gov)
  • Once T.H. Morgan's group showed that genes are located on chromosomes, the two constituents of chromosomes - proteins and DNA - were the candidates for the genetic material. (slideserve.com)
  • In the chromosomes of eukaryotes , the uncondensed DNA exists in a quasi-ordered structure inside the nucleus, where it wraps around histones (structural proteins, Fig. 1). (newworldencyclopedia.org)
  • The findings reported here lend credence to the hypothesis, now supported by four studies of Caucasian populations and most recently by a combined analysis of 1,852 pedigrees, that a type 2 diabetes susceptibility locus resides on chromosome 20q. (diabetesjournals.org)
  • Deletion of a portion of the qarm of chromosome 6 is associated with early onset intestinal cancer, suggesting the presence of acancer susceptibility locus. (biospraysehatalami.com)
  • However, electroretinographic (ERG) analyses of human oguchi patients with defective GRK1 alleles showed normal or s. (utah.edu)
  • During the metaphase, the spindle apparatus becomes well-defined and the chromosomes get arranged at the equatorial plate. (syvum.com)
  • 16. During mitosis, loosely arranged strands of chromosomes become coiled, shortened and distinct during the metaphase. (syvum.com)
  • Despite the very clear proof that thyroid human hormones are crucial for mind development the setting of actions of thyroid human hormones on mobile and molecular focuses on inside the central anxious program is still mainly unfamiliar [74]. (biospraysehatalami.com)
  • Molecular human reproduction 2005 Sep 11 (9): 673-5. (cdc.gov)
  • Telomere length has been analyzed in associated gastric carcinogenesis, the many human cancers, and it has been underlying molecular mechanisms are found to be shorter in some tumors still unknown. (who.int)
  • During the anaphase, the chromosomes divide at the centromere and start moving towards opposite poles. (syvum.com)
  • HG consists of 23 pairs of chromosomes existing in all diploid cells of human beings, where DNA is found and all genetic features of an individual is stored 6 . (bvsalud.org)
  • For researchers who wish to convert T/S ratio to base pairs (bp), the formula is (3,274 + 2,413 * (T/S)). The conversion from T/S ratio to bp is calculated based on comparison of telomeric restriction fragment (TRF) length from Southern blot analysis and T/S ratios using DNA samples from the human diploid fibroblast cell line IMR90 at different population doublings. (cdc.gov)
  • While comparisons across studies of telomere length in base pairs are commonly done, it is not highly accurate. (cdc.gov)
  • 7. During which stage of mitosis do chromatids separate to form two sets of daughter chromosomes? (syvum.com)
  • 13. During which stage of mitosis does longitudinal splitting of the chromosomes occur? (syvum.com)
  • During mitosis (cell division), chromatin is condensed into chromosomes. (newworldencyclopedia.org)
  • A chromatid is one-half of a replicated chromosome, being considered as a chromatid when attached at the centromere and prior to separation and becoming a daughter chromosome. (newworldencyclopedia.org)
  • Sister chromatids are attached at an area called the centromere (not necessarily at the center of the chromosome). (newworldencyclopedia.org)
  • 5. In 2001, France and Germany requested the United Nations General Assembly to develop international conventions on human reproductive cloning, therapeutic cloning and research on stem cells. (who.int)
  • Chromosomes are structures in our cells that hold our DNA or genetic information. (thetech.org)
  • Egg and sperm cells each have 23 chromosomes, or half of a full set. (thetech.org)
  • The cell divides into two cells that each have one duplicated chromosome, and then each of these cells divides again, splitting the duplicated chromosomes into single chromosomes. (thetech.org)
  • The final result is four cells that each have a single chromosome. (thetech.org)
  • This happens for all 23 pairs of chromosomes, so the final egg or sperm cells only have 23 individual chromosomes, instead of 23 pairs. (thetech.org)
  • A chromosome is an organized structure of DNA and protein that is found in cells, with each chromosome being a very long, continuous, single piece of double-stranded DNA (a single DNA molecule) containing many genes , regulatory elements and other nucleotide sequences. (newworldencyclopedia.org)
  • Chromosomes were first observed in plant cells by Swiss botanist Karl Wilhelm von Nägeli (1817-1891) in 1842, and independently, in Ascaris worms, by the Belgian scientist Edouard Van Beneden (1846-1910). (newworldencyclopedia.org)
  • Histological pre-neoplastic changes genomic instability and development that might progress into gastric cancer of cancer in human aged cells by are found in around 50% of people limiting the number of cell divisions. (who.int)
  • Another 40 percent of cases of 6q24-related transient neonatal diabetes mellitus occur when the copy of chromosome 6 that comes from the father has a duplication of genetic material including the paternally expressed imprinted genes in the 6q24 region. (medlineplus.gov)
  • Bailar, Eisenberg, and Mantel Test of Temporal Clustering Bailar, Eisenberg, and Mantel suggested a test of temporal clustering based on the number of pairs of cases in a given area that occur within a specified length of time d of each other (9). (cdc.gov)
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
  • However, this cell also contains some genetic material which is not part of the human chromosome, called mitochondrial DNA (mtDNA), and also essential for our survival. (gramps-project.org)
  • Hence change in genetic material and variation in chromosome is required for the evolution of new species. (icserankers.com)
  • For males however this pair consists of a X chromosome inhereted from the mother, and a Y chromosome, inhereted from the father. (gramps-project.org)
  • 6. In human males all the chromosomes are paired perfectly except one. (icserankers.com)
  • To investigate whether sheep infected with scrapie prions could be another source of infection, we inoculated transgenic mice that overexpressed human prion protein with brain tissue from sheep with natural field cases of classical and atypical scrapie, sheep with experimental BSE, and cattle with BSE. (cdc.gov)
  • Objective To study the pathological types,expression of mismatch repair protein,human epidermal growth factor receptor 2(HER2),and Pan-TRK,and Epstein-Barr virus(EBV)infection in patients with colorectal cancer resected in Tibet. (bvsalud.org)
  • Microtubules are self-assembled from dimers of alpha and beta tubulin (a globular protein), and attach to chromosomes at specialized structures called the kinetochores, one of which is present on each sister chromatid. (newworldencyclopedia.org)
  • If sperm with Y chromosome fertilize the egg zygote will develop into male child. (icserankers.com)
  • If sperm with X chromosome fertilize the egg zygote will develop into female child. (icserankers.com)
  • 2012). Human biology : An evolutionary and biocultural perspective, what are we learning about the expression of genetic information of an individual in specific environments? (deskmatetutors.com)
  • In spite of their appearance, chromosomes are highly structured, which enables these giant DNA structures to be contained within a cell nucleus (Fig. 2). (newworldencyclopedia.org)
  • This developmental period requires reorganization in the human being cortex [71]. (biospraysehatalami.com)
  • While most research of developmental PBDE publicity centered on the prenatal and early postnatal intervals PBDE publicity during childhood could also impact thyroid human hormones. (biospraysehatalami.com)
  • Staphylococcus aureus can be a harmless coloniser, but it can also cause severe infections in humans, livestock and wildlife. (nature.com)
  • The beavers, from which those isolates originated, suffered from abscesses, purulent organ lesions and necrotising pneumonia, i.e., clinical manifestations resembling symptoms of severe PVL-associated disease in humans. (nature.com)
  • Base pair estimates are only comparable for T/S ratio data produced with the same reference standard and the same lab procedures. (cdc.gov)
  • Based on a previous GWAS study, 14 DA associated loci and flanking regions were selected for NGS (6,996,180 base pairs). (cdc.gov)
  • Absolute TLs was measured in had significantly shorter TLs than H. pylori base pairs (bp) in gastric mucosa and negative controls. (who.int)
  • Because the time lag between exposure and development of vCJD may be decades, uncertainty about the extent of the pathogenicity of BSE for humans continues ( 5 ), and subclinical forms of infection may exist ( 6 , 7 ). (cdc.gov)
  • One approach involves the experimental transmission of disease by inoculating homogenized brain tissue from affected animals into transgenic mice that are overexpressing 1 of the 2 common polymorphic forms of the human PrP (either methionine or valine at residue 129) on a mouse PrP null background ( 16 ). (cdc.gov)
  • Relevant of mutagenicity and clastogenici- angiosarcomas of the liver, which carcinogens discussed in this chap- ty, including the induction of sister are rare tumours, were identified in ter do not include pharmaceutical chromatid exchange (SCE), chro- humans, rats, and mice exposed to drugs classified in Group 1, which mosomal aberrations (CA), and mi- vinyl chloride. (who.int)
  • or each of these agents, carcinogenicity in rats and/or mice, els, differences in exposure con- there was sufficient evidence of car- for example for the liver (aflatoxins, ditions between studies in animals cinogenicity from studies in rats and/ trichloroethylene [TCE], and vinyl and in humans, or limitations in Part 1 · Chapter 1. (who.int)
  • To explore the hypothesis that the signals on chromosomes 4 and 20 are differentially attributable to variation in BMI or age of onset, an ordered subset analysis was conducted. (diabetesjournals.org)
  • There are 23 pairs of chromosomes in each human cell. (syvum.com)
  • From the mother one inherits one cell of which these chromosomes form the nucleus. (gramps-project.org)
  • The starting cell has one pair of chromosomes, which have been duplicated. (thetech.org)
  • However, sometimes meiosis goes wrong and a cell can end up with an extra or missing chromosome. (thetech.org)
  • A maximal signal, with a Z score of 2.05, was observed on chromosome 20 near marker D20S195, and another on 20p near marker D20S103 ( Z 1.80). (diabetesjournals.org)
  • A single marker on chromosome 8 (D8S593) and two adjacent markers on chromosome 14 (D14S749 and D14S605) also attained evidence of linkage. (diabetesjournals.org)
  • It is possible to commercially investigate the Y chromosome of a male, and receive marker information. (gramps-project.org)
  • A marker is a grouping on the Y chromosome, of which the structure is investigated, and cataloged. (gramps-project.org)
  • A STR marker has a specific place on the Y chromosome, indicated by a DYS# code ( D NA Y -chromosome S egment), and by a specific value, called allele , which essentially is the number of repeats of a certain marker. (gramps-project.org)
  • It is only inhereted from father to son, and hence is in theory identical to the Y chromosome of the father, apart from possible variants. (gramps-project.org)
  • The use of the technique of nuclear transfer for reproduction of human beings is surrounded by strong ethical concerns and controversies and is considered a threat to human dignity. (who.int)
  • 2. Over the years, the international community has tried without success to build a consensus on an international convention against the reproductive cloning of human beings. (who.int)
  • 3. Creating awareness among ministries of health in the African Region will provide them with critical and relevant information on the reproductive cloning of human beings and its implications to the health status of the general population. (who.int)
  • 7. The WHO Regional Committee for Africa is invited to review this document for information and guidance concerning reproductive cloning of human beings. (who.int)
  • 3. Media reports on nuclear transfer are usually about one form, reproductive nuclear transfer, also known as reproductive cloning of human beings . (who.int)
  • nevertheless the complete description for the discrepancies between individual research and between observations in pet models and human beings is largely unidentified. (biospraysehatalami.com)
  • These data are consistent with the conclusion that prion disease is less likely to develop in humans after exposure to naturally occurring prions of sheep than after exposure to epizootic BSE prions of ruminants. (cdc.gov)
  • This is the only natural context in which individual chromosomes are visible with an optical microscope. (newworldencyclopedia.org)
  • This analysis revealed that only when the families were ranked by BMI (in increasing order) did a subset attain nominal significance, and only for chromosome 4. (diabetesjournals.org)
  • Chromosome 6 pair in human male karyogram . (wikidoc.org)
  • 4-The human animal which has XY pair of chromosomes is called male. (gkquickfacts.com)
  • The BSE prion is an epizootic agent and causes variant Creutzfeldt-Jakob disease (vCJD) in humans after dietary exposure ( 1 - 4 ). (cdc.gov)
  • This increase has rekindled speculation that atypical scrapie in small ruminants might be a source of human prion disease ( 11 ). (cdc.gov)
  • Although atypical scrapie has been discovered retrospectively in 2 UK sheep culled in 1987 and 1989 ( 14 , 15 ), the level and duration of human exposure to atypical scrapie prions are unknown, and this lack of knowledge confounds a cause-and-effect investigation of epidemiologic links between this animal disease and some form of CJD ( 11 ). (cdc.gov)
  • Telomeres are a protective nucleoprotein structure at each chromosome end. (cdc.gov)
  • Each chromosome has two arms, the shorter one called p arm (from the French petit , small) and the longer one q arm ( q following p in the Latin alphabet). (newworldencyclopedia.org)
  • Hmbpp often locates in Face, Protoplasm, Solitary microtubule component of centriole or axonemal complex and Chromosomes, Human, Pair 6. (cmdm.tw)
  • A specific pair GROUP C CHROMSOMES of the human chromosome classification. (bvsalud.org)
  • For metabolized to reactive electro- icity in humans, but the classification bis(chloromethyl)ether (BCME), the philes. (who.int)
  • Humans have 23 pairs of chromosomes which form their DNA (deoxyribose nucleic acid). (gramps-project.org)
  • The development of the human blood-CSF-brain barrier. (cdc.gov)
  • The eral species, including B. cereus and B. aliquot was heated at 65 °C to destroy veg- thurengiensis [ 5,6 ]. (who.int)
  • 15. The nuclear membrane is formed around the newly-formed sets of daughter chromosomes during the telophase. (syvum.com)
  • Because of the similarity in the physiology of gestation between sheep and humans a recent study examined the effects of lambs revealed prenatally to PBDEs and also found inverse associations with both T4 and T3 [85]. (biospraysehatalami.com)
  • Physical growth is considered an important study variable and major international health agencies recommend the monitoring of physical growth as a routine in the medical care of children 6 . (bvsalud.org)
  • Employed by the Wallenbergs, a wealthy Swedish family that ran a startup fund, she worked on their biotech portfolio, dabbling in exotic fields like xenotransplantation-inserting organs from animals (usually pigs) into humans. (sequoiacap.com)
  • Pairs of chromosomes are numbered 1 through 22, and the 23rd pair is named "X" and "Y". Chromosomes are numbered based on their size, with chromosome 1 being the largest and chromosome 21 the smallest. (thetech.org)
  • For females this is a pair of X chromosomes, one from the mother, one from the father. (gramps-project.org)
  • The samples were assayed on duplicate wells, resulting in 6 data points. (cdc.gov)
  • During the telophase, the nuclear membrane appears around the two groups of chromosomes. (syvum.com)