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.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP B 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.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
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.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
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 C CHROMOSOMES of the human chromosome classification.
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.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
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.
The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.
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.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
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 medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
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.
Aberrant chromosomes with no ends, i.e., circular.
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.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
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.
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.
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.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
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.
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.
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.
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.
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 outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
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 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 possession of a third chromosome of any one type in an otherwise diploid cell.
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.
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.
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
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)
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 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).
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.
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 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.
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
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.
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.
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.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
Genetic loci associated with a QUANTITATIVE TRAIT.
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.
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.
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.
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.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
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.
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).
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
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)
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.
An individual having different alleles at one or more loci regarding a specific character.
Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.
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)
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
The process by which a DNA molecule is duplicated.
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 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).
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 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.
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.
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 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.
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.
Genotypic differences observed among individuals in a population.
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 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)
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 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.
Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.
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.)
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
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.
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).
The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
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.
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.
Genes that are located on the X CHROMOSOME.
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.
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.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
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.
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.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
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.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
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).
Genes that influence the PHENOTYPE only in the homozygous state.
PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.
Established cell cultures that have the potential to propagate indefinitely.
Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.
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.
The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.
Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.
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)
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
The degree of replication of the chromosome set in the karyotype.
An individual in which both alleles at a given locus are identical.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.
The relationships of groups of organisms as reflected by their genetic makeup.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
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.
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.
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.
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)
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)
Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
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.
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.
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.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
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)
The functional hereditary units of BACTERIA.
The genetic complement of a plant (PLANTS) as represented in its DNA.
DNA present in neoplastic tissue.
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.
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.
A characteristic symptom complex.
The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.
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.
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.
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.
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.
Deoxyribonucleic acid that makes up the genetic material of fungi.
Genes that are located on the Y CHROMOSOME.
Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.
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 inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.
Deoxyribonucleic acid that makes up the genetic material of plants.
A family of highly conserved serine-threonine kinases that are involved in the regulation of MITOSIS. They are involved in many aspects of cell division, including centrosome duplication, SPINDLE APPARATUS formation, chromosome alignment, attachment to the spindle, checkpoint activation, and CYTOKINESIS.
The mechanisms by which the SEX of an individual's GONADS are fixed.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
The functional hereditary units of INSECTS.
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.
The prophase of the first division of MEIOSIS (in which homologous CHROMOSOME SEGREGATION occurs). It is divided into five stages: leptonema, zygonema, PACHYNEMA, diplonema, and diakinesis.
A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)
A method for ordering genetic loci along CHROMOSOMES. The method involves fusing irradiated donor cells with host cells from another species. Following cell fusion, fragments of DNA from the irradiated cells become integrated into the chromosomes of the host cells. Molecular probing of DNA obtained from the fused cells is used to determine if two or more genetic loci are located within the same fragment of donor cell DNA.
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 presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
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.
Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.

Interacting populations affecting proliferation of leukemic cells in culture. (1/44)

Peripheral blood cells from three patients with acute leukemic have been studied using a suspension culture method previously described.1 Cytogenetic studies in two of the patients permitted the identification of the proliferating cells in the cultures as being derived from a leukemic population. Cell separation studies using velocity sedimentation supported the concept that growth of the leukemic cells in culture is dependent on an interaction between two populations of leukemic cells.  (+info)

A mentally retarded child with a translocation involving chromosomes 12 and 19. (2/44)

This report concerns a de novo reciprocal translocation between the long arms of the chromosomes 12 and 19 in a mentally retarded child with bilateral radioulnar synostosis, agenesis of the corpus callosum, and several minor congenital malformations.  (+info)

Trisomy of the short arm of chromosome 10. (3/44)

A case of a fetus with multiple malformations is described. The mother showed a 46,XX,rcp(10;22) (p11;p11) karyotype. Amniocentesis at the 16th week of gestation revealed that the male fetus had a der(22) chromosome--that is, he was trisomic for a large part of 10p (10pter leads to 10p11). Clinical findings of cases with 10p, 10q, and mosaic 10 trisomies are briefly reviewed.  (+info)

Partial trisomy 20 (20q13) and partial trisomy 21 (21pter leads to 21q21.3). (4/44)

A patient with a double partial trisomy 20 and 21 with mild mental retardation and multiple congenital anomalies is presented. Despite trisomy for a substantial portion of chromosome 21, the patient showed only minor stigmata compatible with Down syndrome.  (+info)

Genome-wide linkage of obstructive sleep apnoea and high-density lipoprotein cholesterol in a Filipino family: bivariate linkage analysis of obstructive sleep apnoea. (5/44)

 (+info)

c-src is consistently conserved in the chromosomal deletion (20q) observed in myeloid disorders. (6/44)

The proto-oncogene c-src has been mapped to two bands in human chromosomes, 1p36 and 20q13, both of which are involved in rearrangements in human tumors. In particular, deletions (loss of part of a chromosome) of the long arm of chromosome 20, del(20q), are commonly observed in hematologic malignant diseases. By using in situ chromosomal hybridization of a c-src probe to metaphase cells prepared from leukemic bone marrow cells of three patients with a del(20q), we observed specific labeling on the deleted chromosome in each patient, indicating that the c-src locus was conserved. The presence on the rearranged chromosomes of c-src, which is normally located on the most distal band of 20q, indicated that the deletions were not terminal as they appeared to be on the basis of chromosome morphology, but rather that they were interstitial. The location of c-src relative to the distal breakpoint in these deletions is unknown. By using the v-src probe in Southern blot analysis of genomic DNA from three patients with a del(20q), we found that no major genomic rearrangements or amplification of the c-src genes had occurred within the regions homologous to v-src. Our observation that c-src is consistently preserved in these rearranged chromosomes suggests that this gene may play a role in the pathogenesis of some myeloid disorders.  (+info)

Leukemia with Down's syndrome: translocation between chromosomes 1 and 19 in acute myelomonocytic leukemia following transient congenital myeloproliferative syndrome. (7/44)

A girl with Down's syndrome was born with a myeloproliferative disorder. The child had spontaneous regression of the myeloproliferation, with acute leukemia developing at a later date. Morphologic, cytochemical, immunologic, and immunoglobulin gene configuration studies all supported the diagnosis of acute nonlymphocytic leukemia. High-resolution chromosome studies revealed that the leukemic cells consistently contained a translocation between chromosomes 1 and 19: der(19)t(1;19)(q25;p13). Spontaneous regression of the transient myeloproliferative syndrome of the newborn with Down's syndrome may not always be permanent, and the transient myeloproliferative syndrome may sometimes represent an early sign of acute nonlymphocytic leukemia.  (+info)

Isolation of duplicated human c-src genes located on chromosomes 1 and 20. (8/44)

The oncogene (v-src) of Rous sarcoma virus apparently arose by transduction of the chicken gene known as c-src(chicken). We isolated DNA fragments representative of two src-related loci from recombinant DNA bacteriophage libraries of the human genome. One of these loci, c-src1(human), appeared to direct the synthesis of a 5-kilobase polyadenylated RNA that presumably encodes pp60c-src(human). Probes specific for the other locus, c-src2(human), did not hybridize to polyadenylated RNA prepared from a variety of human cell lines. Partial nucleotide sequence determinations of the loci demonstrated that c-src1(human) is highly related to chicken c-src and that c-src2(human) is slightly more divergent. The sequences imply that the final two coding exons of each human locus are identical in length to those of chicken c-src and that the location of an amber stop codon is unchanged in all three loci. c-src1(human) has been mapped to chromosome 20, and the second locus is located on chromosome 1. We conclude that c-src1(human) is the analog of c-src(chicken) and that the duplicated locus, c-src2(human), may also be expressed.  (+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.

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.

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.

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.

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.

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."


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.

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.

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.

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.

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.

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.

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 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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 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.

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.

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.

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.

Also known as Burkitt's Lymphoma.

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.

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.

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.

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.

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.

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.

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.

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.

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."

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.

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.

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.

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.

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.

Uveal neoplasms can cause a variety of symptoms, including blurred vision, flashes of light, floaters, and eye pain. These tumors can also cause inflammation and swelling in the eye, which can lead to glaucoma or other complications.

Diagnosis of uveal neoplasms typically involves a combination of physical examination, imaging tests such as ultrasound and MRI, and biopsy. Treatment options for uveal neoplasms depend on the type and location of the tumor, as well as the severity of the disease. Surgery is often the first line of treatment for these tumors, and may involve removal of the affected tissue or the entire eye. Radiation therapy and chemotherapy may also be used in some cases.

Overall, uveal neoplasms are serious conditions that can have a significant impact on vision and eye health. Early diagnosis and treatment are key to improving outcomes for patients with these tumors.

... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 6 ... "Chromosome 6". Genetics Home Reference. Archived from the original on 2007-08-12. Retrieved 2017-05-06. "Chromosome 6". Human ... 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. ...
... is one of the 23 pairs of chromosomes in humans, who normally have two copies of this chromosome. Chromosome 7 ... A ring chromosome occurs when both ends of a broken chromosome are reunited. G-banding ideograms of human chromosome 7 In the ... Wikimedia Commons has media related to Human chromosome 7. National Institutes of Health. "Chromosome 7". Genetics Home ... The following is a partial list of genes on human chromosome 7. For complete list, see the link in the infobox on the right. ...
... 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 is the 5th largest human chromosome, yet has one of the lowest gene densities. This is partially explained by ... Wikimedia Commons has media related to Human chromosome 5. National Institutes of Health. "Chromosome 5". Genetics Home ...
... is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all ... Wikimedia Commons has media related to Human chromosome 1. National Institutes of Health. "Chromosome 1". Genetics Home ... The following is a partial list of genes on human chromosome 1. For complete list, see the link in the infobox on the right. ... It represents about 8% of the total DNA in human cells. It was the last completed chromosome, sequenced two decades after the ...
The following is a partial list of genes on human chromosome 20. For complete list, see the link in the infobox on the right. ... "Human chromosome 20: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Retrieved 2018-03-16. "Search ... The following are some of the gene count estimates of human chromosome 20. Because researchers use different approaches to ... Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome". Genet Test. 1 (3): 225-229. doi:10.1089/ ...
... is one of the 23 pairs of chromosomes in humans. Chromosome 21 is both the smallest human autosome and chromosome ... Chromosome 21 was the second human chromosome to be fully sequenced, after chromosome 22. The following are some of the gene ... "Chromosome 21". Genetics Home Reference. Archived from the original on 2011-06-05. Retrieved 2017-05-06. "Chromosome 21". Human ... Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 21". Genet Test. 1 (4): 301-6. ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 ... Wikimedia Commons has media related to Human chromosome 8. National Institutes of Health. "Chromosome 8". Genetics Home ... The following is a partial list of genes on human chromosome 8. For complete list, see the link in the infobox on the right. ... "Human chromosome 8: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Retrieved 2018-03-16. "Search ...
... is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome. Chromosome ... At about 21.5 genes per megabase, chromosome 11 is one of the most gene-rich, and disease-rich, chromosomes in the human genome ... Wikimedia Commons has media related to Human chromosome 11. National Institutes of Health. "Chromosome 11". Genetics Home ... tumor G-banding ideograms of human chromosome 11 "Human Genome Assembly GRCh38 - Genome Reference Consortium". National Center ...
G-banding ideograms of human Y chromosome The human Y chromosome is normally unable to recombine with the X chromosome, except ... leading to an XX male). Many ectothermic vertebrates have no sex chromosomes. If they have different sexes, sex is determined ... Chromosomes, Chromosomes (human), Genes on human chromosome Y, Male, Sex-determination systems, Sexual dimorphism). ... However, comparisons of the human and chimpanzee Y chromosomes (first published in 2005) show that the human Y chromosome has ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. 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 following is a partial list of genes on human chromosome 4. For complete list, see the link in the infobox on the right. ...
The fusion hypothesis was confirmed in 2005 by discovery that human chromosome 2 is homologous with a fusion of two chromosomes ... For twenty years Morris has maintained that the second law of thermodynamics directly contradicts evolution. ... Is there, ... For example, the fact that humans have one fewer pair of chromosomes than the great apes offered a testable hypothesis ... "Human Chromosome 2". PBS LearningMedia. PBS; WGBH Educational Foundation. 2007. Video segment from Nova's Judgment Day: ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... Wikimedia Commons has media related to Human chromosome 13. National Institutes of Health. "Chromosome 13". Genetics Home ... G-banding ideograms of human chromosome 13 "Human Genome Assembly GRCh38 - Genome Reference Consortium". National Center for ... The following is a partial list of genes on human chromosome 13. For complete list, see the link in the infobox on the right. ...
Chromosomes, Chromosomes (human), Cytogenetics, Sex-determination systems, Sexual dimorphism, Genes on human chromosome X). ... where the SRY region of the Y chromosome has recombined to be located on one of the X chromosomes. As a result, the XX ... "X chromosome". Genetics Home Reference. Archived from the original on 2007-07-08. Retrieved 2017-05-06. "X chromosome". Human ... Since the father retains his X chromosome from his mother, a human female has one X chromosome from her paternal grandmother ( ...
... is one of the 23 pairs of chromosomes in human cells. Humans normally have two copies of chromosome 22 in each ... Chromosome 22 was the first human chromosome to be fully sequenced. Human chromosomes are numbered by their apparent size in ... Chromosome 22 is the second smallest human chromosome, spanning about 49 million DNA base pairs and representing between 1.5 ... Gilbert F (1998). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 22". Genet Test. 2 (1): 89-97. ...
... is one of the twenty-three pairs of chromosomes in humans. People normally have two copies of this chromosome. ... Humans have only twenty-three pairs of chromosomes, while all other extant members of Hominidae have twenty-four pairs. It is ... Chromosomes (human), Human evolution, Genes on human chromosome 2). ... Human chromosome 2 is a result of an end-to-end fusion of two ancestral chromosomes. The evidence for this includes: The ...
Genes on human chromosome 19, Transcription factors, All stub articles, Human chromosome 19 gene stubs). ... "Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and 70 genes or DNA ... LYL1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) v t e (Articles with short ... Protein lyl-1 is a protein that in humans is encoded by the LYL1 gene. LYL1 has been shown to interact with TCF3 and NFKB1. ...
... later also found in human telomeres. Introduction of PFG electrophoresis for the separation of chromosome-sized DNA molecules ... Reid G, Wielinga P, Zelcer N, Van der Heijden I, Kuil A, De Haas M, Wijnholds J, Borst P. The human multidrug resistance ... Bernards A, Michels PA, Lincke CR, Borst P. Growth of chromosome ends in multiplying trypanosomes. Nature. 1983;303:592-7. Van ... Van der Ploeg LH, Cornelissen AW, Barry JD, Borst P. Chromosomes of kinetoplastida. EMBO J. 1984;3:3109-15. Heymans HS, ...
Haplogroup Human Y-chromosome DNA haplogroups Haplogroup I1 (Y-DNA) Haplogroup I2 (Y-DNA) Late Glacial Maximum Aurignacian ... "Y-chromosome diversity in Sweden - A long-time perspective". European Journal of Human Genetics. 14 (8): 963-970. doi:10.1038/ ... "Excavating Y-chromosome haplotype strata in Anatolia". Human Genetics. 114 (2): 127-148. doi:10.1007/s00439-003-1031-4. ISSN ... "Mitochondrial DNA and Y-Chromosome Variation in the Caucasus" (PDF). Annals of Human Genetics. 68 (Pt 3): 205-221. doi:10.1046/ ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 16". Genet Test. 3 (2): 243-54. ... Synesthesia Thalassemia Trisomy 16 Morquio syndrome Red hair G-banding ideograms of human chromosome 16 "Human Genome Assembly ... 16p13.3 Wikimedia Commons has media related to Human chromosome 16. National Institutes of Health. "Chromosome 16". Genetics ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 15". Genet Test. 3 (3): 309-322 ... Wikimedia Commons has media related to Human chromosome 15. National Institutes of Health. "Chromosome 15". Genetics Home ... The human leukocyte antigen gene for β2-microglobulin is found on chromosome 15, as well as the FBN1 gene, coding for both ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... "Chromosome 14". Genetics Home Reference. Archived from the original on 2012-02-04. Retrieved 2017-05-06. "Chromosome 14". Human ... Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 14". Genet Test. 3 (4): 379-91. ... 14 G-banding ideograms of human chromosome 14 "Human Genome Assembly GRCh38 - Genome Reference Consortium". National Center for ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... Chromosome 12 contains the Homeobox C gene cluster. The following are some of the gene count estimates of human chromosome 12. ... "Chromosome 12". Genetics Home Reference. Archived from the original on 2007-06-12. Retrieved 2017-05-06. "Chromosome 12". Human ... Gilbert F, Kauff N (2000). "Disease genes and chromosomes: disease maps of the human genome.Chromosome 12". Genet Test. 4 (3): ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 18". Genet Test. 1 (1): 69-71. ... G-banding ideograms of human chromosome 18 "Human Genome Assembly GRCh38 - Genome Reference Consortium". National Center for ... The following is a partial list of genes on human chromosome 18. For complete list, see the link in the infobox on the right. ...
2004). "Imprinting of the human L3MBTL gene, a polycomb family member located in a region of chromosome 20 deleted in human ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 20, All stub articles, ... 2001). "A high-resolution 6.0-megabase transcript map of the type 2 diabetes susceptibility region on human chromosome 20". ... 2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. Bibcode:2001Natur.414.. ...
Genes on human chromosome 22, Wikipedia articles incorporating text from the United States National Library of Medicine). ... "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID ... KCNJ4+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) This article incorporates text from ... Makhina EN, Kelly AJ, Lopatin AN, Mercer RW, Nichols CG (1994). "Cloning and expression of a novel human brain inward rectifier ...
Humans have one pair fewer chromosomes than other apes, with ape chromosomes 2 and 4 fused in the human genome into a large ... These include natural selection on the X chromosome in the common ancestor of humans and chimpanzees, changes in the ratio of ... The similarity of the X chromosome in humans and chimpanzees might suggest hybridization taking place as late as four million ... However, other mechanisms such as natural selection on the X chromosome in the chimpanzee-human last common ancestor may also ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... Chromosome 17 contains the Homeobox B gene cluster. The following are some of the gene count estimates of human chromosome 17. ... "Chromosome 17". Genetics Home Reference. Archived from the original on 2007-06-30. Retrieved 2017-05-06. "Chromosome 17". Human ... Gilbert F (1998). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 17". Genet Test. 2 (4): 357-81. ...
DNMT3A is a 130 kDa protein encoded by 23 exons found on chromosome 2p23 in humans. There exists a 98% homology between human ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 2). ... expression and chromosome locations of the human DNMT3 gene family". Gene. 236 (1): 87-95. doi:10.1016/S0378-1119(99)00252-8. ... The enzyme is encoded in humans by the DNMT3A gene. This enzyme is responsible for de novo DNA methylation. Such function is to ...
Portal: Biology v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 20, EC ... 2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. Bibcode:2001Natur.414.. ... 1991). "Human immunodeficiency virus-1 glycoproteins gp120 and gp160 specifically inhibit the CD3/T cell-antigen receptor ... Lyu MS, Park DJ, Rhee SG, Kozak CA (1996). "Genetic mapping of the human and mouse phospholipase C genes". Mamm. Genome. 7 (7 ...
Portal: Biology v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 20, ... 2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. Bibcode:2001Natur.414.. ... Tyrosine kinases, All stub articles, Human chromosome 20 gene stubs). ... Tyrosine-protein kinase 6 is an enzyme that in humans is encoded by the PTK6 gene. Tyrosine-protein kinase 6-also known as BRK ...
"Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer". cgap.nci.nih.gov. Retrieved 2018-11-27. Nathanson, ... is an American physician-scientist whose laboratory has made pioneering discoveries in the pathogenesis of human cancer. He is ... Fikes, Bradley J. (9 February 2017). "Cancer genes hide outside chromosomes". sandiegouniontribune.com. Retrieved 2019-01-31. " ... signal transduction and cellular metabolism in the pathogenesis of human cancer. Mischel found that tumors can dynamically ...
In humans, the gene that codes for this enzyme is located on the long arm of chromosome 3 (3q13). This bifunctional enzyme has ... 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 ... gene to river buffalo chromosomes by FISH". Chromosome Research. 2 (3): 255-6. doi:10.1007/BF01553326. PMID 8069469. S2CID ...
Genes on human chromosome 1, All articles lacking reliable references, Articles lacking reliable references from June 2011, ... is an enzyme that in humans is encoded by the PTGS2 gene. In humans it is one of two cyclooxygenases. It is involved in the ... It has been found that human PTGS2 (COX-2) functions as a conformational heterodimer having a catalytic monomer (E-cat) and an ... Studies with human pharmacology and genetics, genetically manipulated rodents, and other animal models and randomized trials ...
Seisenberger C, Winnacker EL, Scherthan H (Aug 1993). "Localisation of the human nuclear factor I/X (NFI/X) gene to chromosome ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 19, Wikipedia articles ... Nuclear factor 1 X-type is a protein that in humans is encoded by the NFIX gene. NFI-X3, a splice variant of NFIX, regulates ... NFIX+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) This article incorporates text from ...
Russek SJ, Farb DH (October 1994). "Mapping of the beta 2 subunit gene (GABRB2) to microdissected human chromosome 5q34-q35 ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 5, Wikipedia articles ... Jiang S, Yu J, Wang J, Tan Z, Xue H, Feng G, He L, Yang H (2001). "Complete genomic sequence of 195 Kb of human DNA containing ... Gamma-aminobutyric acid receptor subunit gamma-2 is a protein that in humans is encoded by the GABRG2 gene. Gamma-aminobutyric ...
Portal: Biology (Articles with short description, Short description matches Wikidata, Genes on human chromosome 20, Webarchive ... "Characterization of human epidermal growth factor receptor and c-Src interactions in human breast tumor cells". Mol. Carcinog. ... Overexpression of Human Epidermal Growth Factor Receptor 2 (HER2), also known as erbB2, is correlated with a worse prognosis ... Lee J, Wang Z, Luoh SM, Wood WI, Scadden DT (January 1994). "Cloning of FRK, a novel human intracellular SRC-like tyrosine ...
2001). "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16". Hum. ... 2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. Bibcode:2004Natur.432.. ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 16). ... C-jun-amino-terminal kinase-interacting protein 3 is an enzyme that in humans is encoded by the MAPK8IP3 gene. The protein ...
Genes on human chromosome 6, Wikipedia articles incorporating text from the United States National Library of Medicine). ... "Cloning and expression of primate Daxx cDNAs and mapping of the human gene to chromosome 6p21.3 in the MHC region". DNA Cell ... DAXX+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) PDBe-KB provides an overview of all ... Death-associated protein 6 also known as Daxx is a protein that in humans is encoded by the DAXX gene. Daxx, a Death domain- ...
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. ... Some single-celled organisms have much more DNA than humans, for reasons that remain unclear (see non-coding DNA and C-value ... "Nuclear DNA content and genome size of trout and human". Cytometry Part A. 51 (2): 127-128. doi:10.1002/cyto.a.10013. PMID ...
Hauresko, Cecilia (2009). "A IMIGRAÇÃO UCRANIANA NA AMÉRICA LATINA (SÉCULOS XIX E XX): IDENTIDADE E CULTURA". Boletim Goiano de ... Spillover effects led to increased levels of human capital, with the effect being most prominent in regions with the highest ... Carvalho-Silva, DR; Santos, FR; Rocha, J; Pena, SD (January 2001). "The Phylogeography of Brazilian Y-Chromosome Lineages". ... Bytsenko, Anastassia (2006). Imigração da Rússia para o Brasil no início do século XX. Visões do Paraíso e do Inferno. (1905- ...
v t e (Articles with short description, Short description is different from Wikidata, Genes on human chromosome 6, Wikipedia ... Human gene HSPA1B is an intron-less gene which encodes for the heat shock protein HSP70-2, a member of the Hsp70 family of ... Han C, Chen T, Li N, Yang M, Wan T, Cao X (February 2007). "HDJC9, a novel human type C DnaJ/HSP40 member interacts with and ... HSPA1B+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) This article incorporates text ...
... to show that the interferon action gene and interferon gene reside in different human chromosomes. The purification of human ... More than twenty distinct IFN genes and proteins have been identified in animals, including humans. They are typically divided ... Meager A, Graves H, Burke DC, Swallow DM (August 1979). "Involvement of a gene on chromosome 9 in human fibroblast interferon ... The superinduced human beta interferon messenger RNA was prepared by Tan's lab for Cetus corp. to clone the human beta ...
v t e (Genes on human chromosome 2, All stub articles, Human chromosome 2 gene stubs). ... Cannizzaro LA, Madaule P, Hecht F, Axel R, Croce CM, Huebner K (February 1990). "Chromosome localization of human ARH genes, a ... Ras homolog gene family, member B, also known as RHOB, is a protein which in humans is encoded by the RHOB gene. RHOB is a ... Chardin P, Madaule P, Tavitian A (March 1988). "Coding sequence of human rho cDNAs clone 6 and clone 9". Nucleic Acids Research ...
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 ... It has a terete (round in cross-section), flowering stem, that can grow up to 25-50 cm (10-20 in) long. The stem often is ...
Articles with short description, Short description matches Wikidata, Genes on human chromosome 5). ... 1993). "Dephosphorylation of human p34cdc2 kinase on both Thr-14 and Tyr-15 by human cdc25B phosphatase". FEBS Lett. 318 (3): ... M-phase inducer phosphatase 3 is an enzyme that in humans is encoded by the CDC25C gene. This gene is highly conserved during ... Re F, Braaten D, Franke EK, Luban J (1995). "Human immunodeficiency virus type 1 Vpr arrests the cell cycle in G2 by inhibiting ...
Portal: Biology (Articles with short description, Short description is different from Wikidata, Genes on human chromosome 9, ... Tyrosine-protein kinase ABL1 also known as ABL1 is a protein that, in humans, is encoded by the ABL1 gene (previous symbol ABL ... "UniProtKB - P00519 (ABL1_HUMAN)". Uniprot. Retrieved 18 May 2020. "Entrez Gene: ABL1 v-abl Abelson murine leukemia viral ... This gene is a partner in a fusion gene with the BCR gene in the Philadelphia chromosome, a characteristic abnormality in ...
Articles with short description, Short description matches Wikidata, Genes on human chromosome 19). ... Polypyrimidine tract-binding protein 1 is a protein that in humans is encoded by the PTBP1 gene. This gene belongs to the ... de Vries H, Rüegsegger U, Hübner W, Friedlein A, Langen H, Keller W (November 2000). "Human pre-mRNA cleavage factor II(m) ... Raimondi E, Romanelli MG, Moralli D, Gamberi C, Russo MP, Morandi C (June 1995). "Assignment of the human gene encoding ...
... lemurs and other non-human primates were later separated from humans by being placed in the order Quadrumana by Johann ... From the lemurs studied so far, the diploid number of chromosomes varies between 2n=20 and 2n=66. In the case of the brown ... The arrival of humans on the island 1,500 to 2,000 years ago has taken a significant toll, not only on the size of lemur ... He also placed humans in the order Bimana.) This view was upheld by other famous naturalists and zoologists of the time, ...
Articles with short description, Short description is different from Wikidata, Genes on human chromosome 1, All articles with ... Mouse CD Antigen Chart Human CD Antigen Chart Human CD34 genome location and CD34 gene details page in the UCSC Genome Browser ... It is important to mention that Long-Term Haematopoietic Stem Cells (LT-HSCs) in mice and humans are the haematopoietic cells ... Kees UR, Ford J (February 1999). "Synergistic action of stem-cell factor and interleukin-7 in a human immature T-cell line". ...
Human Development and Social Power: Perspectives from South Asia, by Ananya Mukherjee Reed. Published by Taylor & Francis, 2008 ... A research regarding the comparison of Y chromosomes of Indian Muslims with other Indian groups was published in 2005. In this ... Religion is belief in Almighty God that must be possessed by every human being. Religion can be divided into Muslim, Christian ... Gene Diversity in Some Muslim Populations of North India Human Biology - Volume 77, Number 3, June 2005, pp. 343-353 - Wayne ...
The effects of excessive androgens differ in fetuses with XX chromosome (female) and XY chromosomes (male). In XX chromosome ... Human sexuality portal Intersex medical interventions Patient support group Sreenivasan, R.; Alankarage, D.; Harley, V. (2017- ... In XY chromosome fetuses, excess androgens result in a functional and average-sized penis with extreme virilisation, but the ... This includes sex chromosome DSDs such as Klinefelter syndrome, Turner syndrome and 45,X or 46,XY gonadal dysgenesis. Males ...
Portal: Biology (Articles with short description, Short description matches Wikidata, Genes on human chromosome 19, Wikipedia ... Cytochrome P450 2B6 is an enzyme that in humans is encoded by the CYP2B6 gene. CYP2B6 is a member of the cytochrome P450 group ... Yang K, Koh KH, Jeong H (August 2010). "Induction of CYP2B6 and CYP3A4 expression by 1-aminobenzotriazole (ABT) in human ... CYP2B6 at the US National Library of Medicine Medical Subject Headings (MeSH) Human CYP2B6 genome location and CYP2B6 gene ...
Y-Chromosome DNA (Y-DNA) represents the male lineage, The Norwegian Y-chromosome pool may be summarized as follows where ... The American Journal of Human Genetics. 96 (1): 37-53. doi:10.1016/j.ajhg.2014.11.010. ISSN 0002-9297. PMC 4289685. PMID ... According to recent genetic analysis, both mtDNA (mitochondrial DNA) and Y chromosome polymorphisms showed a noticeable genetic ... The American Journal of Human Genetics. 96 (1): 54-69. doi:10.1016/j.ajhg.2014.11.012. ISSN 0002-9297. PMC 4289681. PMID ...
Human mitochondrial DNA was the first significant part of the human genome to be sequenced. This sequencing revealed that the ... Medusozoa and calcarea clades however have species with linear mitochondrial chromosomes. In terms of base pairs, the anemone ... Sykes B (10 September 2003). "Mitochondrial DNA and human history". The Human Genome. Wellcome Trust. Archived from the ... after humans diverged from apes. Results indicate such transfers currently occur as frequent as once in every ~4,000 human ...
Genes on human chromosome 7, Genes on human chromosome 22, EC 2.8.2). ... Danan LM, Yu Z, Ludden PJ, Jia W, Moore KL, Leary JA (Sep 2010). "Catalytic mechanism of Golgi-resident human tyrosylprotein ... Human genes that encode protein-tyrosine sulfotransferase enzymes include: Sulfotransferase Lee RW, Huttner WB (September 1983 ... "Crystal structure of human tyrosylprotein sulfotransferase-2 reveals the mechanism of protein tyrosine sulfation reaction". ...
46 chromosomes in the human). Each spermatocyte undergoes two rounds of meiosis to produce in the first round, two haploid ... Developing sperm carrying a Y chromosome can be supplied with essential proteins encoded by genes on the X chromosome. de ... 23 chromosomes in the human) spermatids. These spermatids then undergo differentiation into mature sperm. In these developing ... Similar to the drosophila model, germ-line cysts in mammals such as mice and humans facilitate the transport of substances ...
July 2010). "Human Y-chromosome short tandem repeats: a tale of acculturation and migrations as mechanisms for the diffusion of ... R1a1-M17 accounts for about one-seventh to one-sixth of Serbian Y-chromosomes. It is represented by four sub-clusters R1a ( ... September 2007). "Human Y-specific STR haplotypes in population of Serbia and Montenegro". Forensic Science International. 171 ... Regueiro M, Rivera L, Damnjanovic T, Lukovic L, Milasin J, Herrera RJ (April 2012). "High levels of Paleolithic Y-chromosome ...
v t e (Genes on human chromosome 4, All stub articles, Human chromosome 4 gene stubs). ... "cDNAs with long CAG trinucleotide repeats from human brain". Human Genetics. 100 (1): 114-22. doi:10.1007/s004390050476. PMID ... Lin SE, Oyama T, Nagase T, Harigaya K, Kitagawa M (December 2002). "Identification of new human mastermind proteins defines a ... Mastermind-like 3 (Drosophila) is a protein that in humans is encoded by the MAML3 gene. GRCh38: Ensembl release 89: ...
Of the twenty-five men hit by the falling ice, sixteen were killed, all of them Nepalis working for guided climbing teams. ... The Y-chromosome haplogroup distribution for Sherpas follow a pattern similar to that for Tibetans. Sherpa mtDNA distribution ... Kamler, K. (2004). Surviving the extremes: What happens to the body and mind at the limits of human endurance, p. 212. New York ... A spiritual ceremony may be conducted at every building stage as the house must have space for deities, humans and animals. ...
Only fertilised queens can lay diploid eggs (one set of chromosomes from a drone, one from the queen) that mature into workers ... Twenty-First Century Books. p. 46. ISBN 978-0-8225-7949-6. Abbott, Carl, and Bartlett, John. "Bumble Bees". Encarta ... The sting is painful to humans, and not medically significant in most cases, although it may trigger an allergic reaction in ... Bumblebee workers can lay unfertilised haploid eggs (with only a single set of chromosomes) that develop into viable male ...
Chromosome 11 is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome. Chromosome ... Chromosome 11 (human). File:Human male karyotpe high resolution - Chromosome 11 cropped.png. Human chromosome 11 pair after G- ... File:Human chromosome 11 - 400 550 850 bphs.png. G-banding patterns of human chromosome 11 in three different resolutions (400, ... File:Human chromosome 11 ideogram vertical.svg. G-banding ideogram of human chromosome 11 in resolution 850 bphs. Band length ...
Examples of identifying information found in human DNA & RNA:. Trait Genes Chromosome location ... At least 10 scenarios exist where anonymous human subjects consent design can be compromised, each with precedents below.. ... The human genome project sequence is largely from one man from Buffalo. , NY. (code RP11).. ... An anonymous sperm donor was traced on the internet 2005 by his 15 year old son who used his own Y chromosome genealogy to ...
Higher-Order Structure of Human Mitotic Chromosomes Format: Text 19. How to Live with a Golden Helix Format: Text ... 10 per page 20 per page 50 per page 100 per page ... General Model for the Chromosomes of Higher Organisms Format: ...
3]Image credit: https://en.wikipedia.org/wiki/File:Human_chromosome_20_from_Gene_Gateway_-_with_label.png. [4]Image credit: ...
Chromosome 8 spans more than 146 million DNA building blocks (base pairs) and represents between 4.5 and 5 percent of the total ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 8, one copy inherited from ... Ensembl Human Map View: Chromosome 8. *Feenstra I, van Ravenswaaij CM, van der Knaap MS, Willemsen MA. Neuroimaging in nine ... DNA sequence and analysis of human chromosome 8. Nature. 2006 Jan 19;439(7074):331-5. doi: 10.1038/nature04406. Citation on ...
CDC twenty four seven. Saving Lives, Protecting People ... Predicting susceptibility and incubation time of human-to-human ... Collinge J, Whitfield J, McKintosh E, Beck J, Mead S, Thomas DJ, Kuru in the 21st century-an acquired human prion disease with ... Wadsworth JD, Powell C, Beck JA, Joiner S, Linehan JM, Brandner S, Molecular diagnosis of human prion disease. Methods Mol Biol ... Kong Q, Huang S, Zou W, Vanegas D, Wang M, Wu D, Chronic wasting disease of elk: transmissibility to humans examined by ...
Chromosome 6 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 6 ... Chromosome 6. File:Human male karyotpe high resolution - Chromosome 6 cropped.png. Human chromosome 6 pair after G-banding. ... File:Human chromosome 6 ideogram vertical.svg. G-banding ideogram of human chromosome 6 in resolution 850 bphs. Band length in ... File:Human chromosome 06 - 400 550 850 bphs.png. G-banding patterns of human chromosome 6 in three different resolutions (400,[ ...
With neoplastic progression, the virus might integrate into the host chromosomes, and little virion production will occur. ... Human papillomavirus infection in women infected with the human immunodeficiency virus. N Engl J Med 1997;337:1343--9. ... Duensing S, Munger K. Mechanisms of genomic instability in human cancer: insights from studies with human papillomavirus ... IARC monograph on the evaluation of carcinogenic risks to humans: human papillomaviruses. 1995. Lyons, France, IARC; 2000. ...
... metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs ... Chromosome, Group F Chromosomes F Chromosomes, Group F Group F Chromosome Group F Chromosomes ... Chromosome, Group F. Chromosomes F. Chromosomes, Group F. Group F Chromosome. Group F Chromosomes. ... metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs ...
Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences. Nature Genetics 48 (6), S. 593 ... DMSO induces drastic changes in human cellular processes and epigenetic landscape in vitro. Scientific Reports 9 (9), 4641 ( ... A global reference for human genetic variation. Nature 526 (7571), S. 68 - 74 (2015) ... 19.. Zeitschriftenartikel Poznik, G. D.; Xue, Y.; Mendez, F. L.; Willems, T. F.; Massaia, A.; Wilson Sayres, M. A.; The 1000 ...
Which part of the human body safeguards the trachea from food inhalation? ... Lets See If You Know Your Basic Science - Can You Get 20/20 On This Quiz? You got %%score%% out of %%total%%!. ... Anyone With The Most Basic Geographic Knowledge Should Get 19/26 On This Quiz. Play quiz ...
Danuta Jachimczak and Bogumila Skotarczak, The Effect of Fluorine and Lead Ions on the Chromosomes of Human Leucocytes in ... with xeroderma pigmentosum accelerates the aging process to the extent that xeroderma pigmentosum patients in their 20s have ... human cell culture. fluoride causes genetic damage. 1985. Medical Research Council, Edinburgh (UK). human WBCs. fluoride causes ... Danuta Jachimzcak and Bogumila Skotarczak, The Effect of Fluorine and Lead Ions on the Chromosomes of Human Leucocytes in ...
Developments in the origins and the culture of humans and their societies. ... Human Origins 07-20-2013. • arclein Why for example do we have only 46 chromosomes when the Hominoids we evolved from have 48? ... analysed the entire Y chromosome of 69 men from Africa, Eurasia and Central America. They found more than 11,000 sites of ... Mysterious Human Skeleton Is Just Six Inches Long 05-01-2013. • Business Insider A teensy skeleton with a squashed alienlike ...
Adult; Child; Chromosomes, Human, Pair 8* Female 2015-06-12 · Isolated trisomy 8 is not considered presumptive evidence of ... Chromosome 8 carries two oncogenes, which may account for the development of cancer among some patients with trisomy 8 ... is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with ... 19. 17. Table 1 The characteristics and sonography findings for the 8 patients. All pregnancies resulted in a live birth, ...
Congenital ocular defects associated with an abnormality of the human chromosome 1: trisomy 1q32-qter. This article describes ... The probands sister exhibited speech delay, mild facial dysmorphism, and renal malformation, and her karyotype was 46,XX. ... Molecular analysis showed that she had inherited normal chromosomes 3 and 9, as well as the chromosome 8 with the insertion of ... 9 translocation chromosomes together with his normal chromosome 8 (not bearing the insertion from 9p23). Neither the deletion ...
Evidence for a Human Y Chromosome Molecular Clock: Pedigree-Based Mutation Rates Suggest a 4,500-Year History for Human ... Comprehensive Analysis of Chimpanzee and Human Chromosomes Reveals Average DNA Similarity of 70%. Jeffrey P. Tomkins • Feb. 20 ... The timescale for the human Y chromosome family tree has been a source of sharp disagreement within the creation/evolution ... Population Growth Curves Confirm the Recent Origin of Human Y Chromosome Differences. Dr. Nathaniel T. Jeanson • Dec. 4, 2019 ...
We constructed an activity map of the tammar wallaby inactive X chromosome, which identified no relationship between gene ... The paternal and incomplete X chromosome inactivation in marsupials, with stochastic escape, appears to be quite distinct from ... the X chromosome inactivation process in eutherians. We find no evidence for a polar spread of inactivation from an X ... X chromosome inactivation is a spectacular example of epigenetic silencing. In order to deduce how this complex system evolved ...
The DNA sequence and analysis of human chromosome 6. Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, et al. ... Human-chromatin-related protein interactions identify a demethylase complex required for chromosome segregation. Marcon E, Ni Z ... A human protein-protein interaction network: a resource for annotating the proteome. Stelzl U, Worm U, Lalowski M, Haenig C, ... Toward an understanding of the protein interaction network of the human liver. Wang J, Huo K, Ma L, Tang L, Li D, Huang X, et ...
DNA methylation is an epigenetic modification in which a methyl (CH3) group is attached to cytosine, a nucleobase in human DNA ... Resonant THz radiation demethylated living melanoma cells by 19%, with no significant occurrence of apurinic/apyrimidinic sites ... Makos, M. et al. Distinct hypermethylation patterns occur at altered chromosome loci in human lung and colon cancer. Proc. Natl ... Bloushtain-Qimron, N. et al. Cell type-specific DNA methylation patterns in the human breast. Proc. Natl. Acad. Sci. U.S.A. 105 ...
... the repair of DNA double-strand breaks and homologous chromosome pairing, which are requisites for proper chromosome ... Human African Sleeping Sickness: Sex Cells in Parasites Are Doing Their Own Thing ... Discovery of "Yoyo" Mechanism: Turning X Chromosome "Off and On Again" Critical for Oocyte Development ... At 34°C (scrotal temperature), meiosis proceeds normally with all the homologous chromosomes paired normally. At 37 and 38°C ( ...
"The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations". Annals of Human Genetics. 65 ... a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187-91. doi:10.1002/humu.22468. PMID ... Haplogroup G (M201) is a human Y-chromosome haplogroup. It is one of two branches of the parent haplogroup GHIJK, the other ... March 2008). "Differential Y-chromosome Anatolian influences on the Greek and Cretan Neolithic". Annals of Human Genetics. 72 ( ...
Journal of Human Growth and Development. versão impressa ISSN 0104-1282. versão On-line ISSN 2175-3598. J. Hum. Growth Dev. vol ... Somatic mutations of the lysyl oxidase gene on chromosome 5q23.1 in colorectal tumors. Int J Cancer 2002; 97: 636-42. https:// ... In this study, the LOX G473A polymorphism, as an intrinsic factor for carcinogenesis in humans, is analyzed to determine if it ... Reduced lysyl oxidase messenger RNA levels in experimental and human prostate cancer. Cancer Research 1998; 58: 1285-90. [ ...
One week for mice is roughly equivalent to one year of human life. Thus, the mice were in their 60s to 70s in human terms and ... At the ends of our chromosomes are stretches of DNA called telomeres. These telomeres protect our genetic data, making it ... That being said, human clinical research on algae oil sources of O3FA is limited, and the cost is far more than fish oil. ... While human beings evolved on a diet with approximately a 1:1 ratio of omega-6 to omega-3 fatty acids (EFA), the current ...
Distribution of the chromosome number is found at the hyperploid range, and the apparent marker chromosome has not been ... Human mesenchymal stem cells are a promising cell source for the treatment of stroke. Their primary mechanism of action occurs ... The population doubling time is about 29 h. The number of chromosomes ranges from 60 to 83. The modal number of chromosomes is ... Induced human dental pulp stem cells were subjected to oxygen-glucose deprivation and reoxygenation to recapitulate ischemia ...
... following genetic studies that show male mice can be created without a Y chromosome †... University of Adelaide researchers are a step closer to unraveling the mysteries of human sexual development, ... "It is now very likely that something similar to what has happened in the XX male mice and humans we describe also occurred in ... Males usually have one Y chromosome and one X chromosome, while females have two X chromosomes. A single gene on the Y, called ...
  • A specific pair of GROUP F CHROMOSOMES of the human chromosome classification. (nih.gov)
  • At 21.5 genes per megabase , Chromosome 11 is one of the most gene-rich, and disease-rich, chromosomes in the human genome . (wikidoc.org)
  • More than 40% of the 856 olfactory receptor genes in the human genome are located in 28 single-gene, and multi-gene, clusters along this chromosome. (wikidoc.org)
  • The following are some of the gene count estimates of human chromosome 11. (wikidoc.org)
  • 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)
  • The most common translocation involved in this condition, written as t(8;13)(p11;q12), fuses part of the FGFR1 gene on chromosome 8 with part of the ZMYM2 gene on chromosome 13. (medlineplus.gov)
  • The translocation, written as t(8;21), fuses part of the RUNX1T1 gene (also known as ETO ) from chromosome 8 with part of the RUNX1 gene from chromosome 21. (medlineplus.gov)
  • 8. Human KRML (MAFB): cDNA cloning, genomic structure, and evaluation as a candidate tumor suppressor gene in myeloid leukemias. (nih.gov)
  • The International Lung Cancer Chromosome 3p21.3 Tumor Suppressor Gene Consortium. (nih.gov)
  • 16. Molecular analysis of the human chromosome 5q13.3 region in patients with hairy cell leukemia and identification of tumor suppressor gene candidates. (nih.gov)
  • 17. HYAL1LUCA-1, a candidate tumor suppressor gene on chromosome 3p21.3, is inactivated in head and neck squamous cell carcinomas by aberrant splicing of pre-mRNA. (nih.gov)
  • 18. Mutational analysis of the ST7 gene in human myeloid tumor cell lines. (nih.gov)
  • 20. hSmad5 gene, a human hSmad family member: its full length cDNA, genomic structure, promoter region and mutation analysis in human tumors. (nih.gov)
  • 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)
  • The analyses of a newly identified discrepant region-the KLRC gene cluster-show that the depletion of KLRC2 by a single-deletion event is associated with natural killer cell differentiation in ~ 20% of humans. (bvsalud.org)
  • We constructed an activity map of the tammar wallaby inactive X chromosome, which identified no relationship between gene location and extent of inactivation, nor any correlation with the presence or absence of a Y-borne paralog. (biomedcentral.com)
  • Since most X genes were originally present on the proto-Y chromosome, the progressive loss of Y gene function resulted in a dosage imbalance of X-borne genes between XX and XY individuals. (biomedcentral.com)
  • Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
  • Down's syndrome - also known as trisomy 21 - is a genetic disorder caused by an additional third chromosome 21. (news-medical.net)
  • Although this genetic abnormality is found in one out of 700 births, only 20% of foetuses with trisomy 21 reach full term. (news-medical.net)
  • Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. (firebaseapp.com)
  • This chromosome abnormality is written rec(8)dup(8q)inv(8)(p23.1q22.1). (medlineplus.gov)
  • Dup15q syndrome arises only if the chromosome abnormality occurs on the copy of the chromosome inherited from the mother (the maternal copy). (nih.gov)
  • The most common chromosome abnormality that leads to 15q11.2-q13.1 duplication, occurring in about 80 percent of people with dup15q syndrome, is called an isodicentric chromosome 15. (nih.gov)
  • People normally inherit one copy of chromosome 15 from each parent. (nih.gov)
  • Human chromosome 11 pair after G-banding . (wikidoc.org)
  • Chromosome 11 pair in human male karyogram . (wikidoc.org)
  • Chromosomes, Human, Pair 8* Female 2015-06-12 · Isolated trisomy 8 is not considered presumptive evidence of myelodysplastic syndrome (MDS) in cases without minimal morphological criteria. (firebaseapp.com)
  • Chromosome 11 is one of the 23 pairs of chromosomes in humans . (wikidoc.org)
  • Chromosome 11 spans about 135 million base pairs (the building material of DNA ) and represents between 4 and 4.5 percent of the total DNA in cells . (wikidoc.org)
  • This group consists of chromosome pairs 19 and 20. (nih.gov)
  • Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
  • Two copies of chromosome 8, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
  • Chromosome 8 spans more than 146 million DNA building blocks (base pairs) and represents between 4.5 and 5 percent of the total DNA in cells. (medlineplus.gov)
  • 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)
  • The eutherian X and Y chromosomes show homology within a pseudoautosomal region that pairs at meiosis, and most Y genes have a homologue on the X chromosome, from which they clearly evolved. (biomedcentral.com)
  • The major histocompatibility complex, known as the human leukocyte antigen (HLA) complex in humans, forms an integral component of adaptive T cell immunity by presenting self and non-self peptides to the T cell receptor, thereby allowing clonal expansion of responding peptide-specific CD4+ and CD8+ T cel s. (who.int)
  • It has recently been renamed SARS-CoV-1 to differentiate it from the new SARS-CoV-2, which is responsible for the disease named by the World Health Organization (WHO) COVID-19 for CO rona VI rus D isease 2019 . (encyclopedie-environnement.org)
  • abstract) Forensic Science International 159:14-20. (isogg.org)
  • The HLA complex is found on the short arm of chromosome 6 and is the most polymorphic region in the human genome. (who.int)
  • The HLA region is the most polymorphic region in the human genome. (who.int)
  • Despite the fragmentation, a set of MHC core genes involved in peptide transport, loading and presentation are still found in a single linkage group.Conclusion: The results extend the linkage information of MHC core genes on zebrafish chromosome 19 and show the distribution of the remaining MHC genes and their paralogues to be genome- wide. (ucl.ac.uk)
  • The largest heterochromatic region in the human genome, Yq12, is composed of alternating repeat arrays that show extensive variation in the number, size and distribution, but retain a 1:1 copy-number ratio. (bvsalud.org)
  • The availability of fully sequence-resolved Y chromosomes from multiple individuals provides a unique opportunity for identifying new associations of traits with specific Y-chromosomal variants and garnering insights into the evolution and function of complex regions of the human genome. (bvsalud.org)
  • BACKGROUND: The first telomere-to-telomere (T2T) human genome assembly (T2T-CHM13) release is a milestone in human genomics. (bvsalud.org)
  • The current human genome reference (GRCh38) has been widely used in various human genomic studies. (bvsalud.org)
  • In nearly all mammals, this mitochondrial genome is inherited exclusively from the mother, and transmission of paternal mitochondria or mitochondrial DNA (mtDNA) has not been convincingly demonstrated in humans. (eupedia.com)
  • The beginning of 2020 was marked by the emergence of a respiratory disease that rapidly spread among the world's population to such an extent that it had to be recognized that humans were facing, after the relatively limited influenza A pandemic in 2009-2010, the first major pandemic of the 21st century (See Viral Pandemics of the Modern Era ). (encyclopedie-environnement.org)
  • A tetrad of chromatin interactions for chromosome pairing in X inactivation. (nih.gov)
  • X chromosome inactivation is a spectacular example of epigenetic silencing. (biomedcentral.com)
  • The paternal and incomplete X chromosome inactivation in marsupials, with stochastic escape, appears to be quite distinct from the X chromosome inactivation process in eutherians. (biomedcentral.com)
  • American Journal of Human Genetics, 83(6): 725-36. (isogg.org)
  • available by subscription) European Journal of Human Genetics, 13:1293-1302. (isogg.org)
  • American Journal of Human Genetics, 82(1):236-250. (isogg.org)
  • NIEHS research uses state-of-the-art science and technology to investigate the interplay between environmental exposures, human biology, genetics, and common diseases to help prevent disease and improve human health. (nih.gov)
  • Deep Phylogenetic Analysis of Haplogroup G1 Provides Estimates of SNP and STR Mutation Rates on the Human Y-Chromosome and Reveals Migrations of Iranic Speakers. (isogg.org)
  • Does that mean that a mutation on one of the chromosomes may be responsible for it? (eupedia.com)
  • The latter, like the masked palmed civet ( Paguma larvata ) in the 2002-2003 epidemic, is believed to have acted as an intermediate host between bats and humans to give rise to SARS-CoV-2, which is highly contagious in humans (See Focus: Bats and coronavirus emergence). (encyclopedie-environnement.org)
  • The short, metacentric human chromosomes, called group F in the human chromosome classification. (nih.gov)
  • This region comprises three classes (I, II and III) that play an and consists of ~20 genes. (who.int)
  • In mammals, the classical MHC consists of a large number of linked genes (e. g. greater than 200 in humans) with predominantly immune function. (ucl.ac.uk)
  • In some birds, it consists of only a small number of linked MHC core genes (e. g. smaller than 20 in chickens) forming a minimal essential MHC and, in fish, the MHC consists of a so far unknown number of genes including non- linked MHC core genes. (ucl.ac.uk)
  • Chromosome togetherness at the onset of ESC differentiation. (nih.gov)
  • News-Medical spoke to Yourgene health on their efforts during the COVID-19 pandemic, and how they developed a diagnostic test for COVID-19. (news-medical.net)
  • The current COVID-19 pandemic is no exception, and has once again brought bats to the forefront. (encyclopedie-environnement.org)
  • What role did they play in the origin of the COVID-19 pandemic? (encyclopedie-environnement.org)
  • AbstractAlthough there has been considerable debate about whether paternal mitochondrial DNA (mtDNA) transmission may coexist with maternal transmission of mtDNA, it is generally believed that mitochondria and mtDNA are exclusively maternally inherited in humans. (eupedia.com)
  • 4. cDNA cloning and genomic structure of three genes localized to human chromosome band 5q31 encoding potential nuclear proteins. (nih.gov)
  • The prevalence of highly repetitive sequences within the human Y chromosome has prevented its complete assembly to date1 and led to its systematic omission from genomic analyses. (bvsalud.org)
  • CONCLUSION: Our study provides a foundation for understanding the large-scale structural genomic differences between the two crucial human reference genomes, and is thereby important for future human genomics studies. (bvsalud.org)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 8. (medlineplus.gov)
  • and there are three copies each of the genes on the section of chromosome 8q that is duplicated. (medlineplus.gov)
  • In people with an isodicentric chromosome 15, cells have the usual two copies of chromosome 15 plus the two duplicated copies of the segment of genetic material in the isodicentric chromosome, for a total of four copies of the duplicated segment. (nih.gov)
  • In these cases, cells have two copies of chromosome 15, one of which has an extra copy of the segment of genetic material, for a total of three copies of the duplicated segment. (nih.gov)
  • HHV-6 was the sixth herpesvirus discovered, and infection in humans is nearly ubiquitous in the first two years of life, with seroprevalence rates surpassing 95% in most studies. (medscape.com)
  • A study from the National Institutes of Health describes the immune response triggered by COVID-19 infection that damages the brain’s blood vessels and may lead to short- and long-term neurological symptoms. (nih.gov)
  • Researchers have found that individuals with learning disabilities are more likely to suffer from severe cases of COVID-19 infection. (news-medical.net)
  • Duplication of a region of the long (q) arm of chromosome 15 can result in 15q11-q13 duplication syndrome (dup15q syndrome), a condition whose features can include weak muscle tone (hypotonia), intellectual disability, recurrent seizures (epilepsy), and characteristics of autism spectrum disorder affecting communication and social interaction. (nih.gov)
  • While the regions affected in recombinant chromosome 8 includes hundreds of genes, researchers are working to determine which genes play a role in the signs and symptoms of this condition. (medlineplus.gov)
  • In a new study, researchers assessed the risk factors associated with COVID-19-related hospitalization or mortality. (news-medical.net)
  • By reprogramming skin cells into nerve cells, researchers at Karolinska Institutet are creating cell models of the human brain. (news-medical.net)
  • Human spinal cord cell atlas provides foundation to study neurodegeneration, chronic pain, and other diseases. (nih.gov)
  • The NIH Brain Research Through Advancing Innovative Neurotechnologies® (BRAIN​) Initiative Cell Census Network (BICCN) has unveiled an atlas of cell types and an anatomical neuronal wiring diagram for the mammalian primary motor cortex, derived from detailed studies of mice, monkeys, and humans. (nih.gov)
  • 2. Smad5, a tumor suppressor candidate at 5q31.1, is hemizygously lost and not mutated in the retained allele in human leukemia cell line HL60. (nih.gov)
  • 15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. (nih.gov)
  • Nat Cell Biol (2017 Jul 28) 19:883-885. (nih.gov)
  • Cell Rep (2017 Jun 20) 19:2490-2502. (nih.gov)
  • CTCF-mediated transcriptional regulation through cell type-specific chromosome organization in the β-globin locus. (nih.gov)
  • In monotremes, genes are transcribed from both X chromosomes in the cell population. (biomedcentral.com)
  • In particular, although spermatogenesis is completed at 34°C/93°F (the scrotal temperature), warming to 37-38°C/98.6-100°F (temperatures in the abdomen) severely affects meiosis-the process of segregating homologous chromosomes into haploid sperms-and the damaged cells undergo cell death. (scitechdaily.com)
  • At 37 and 38°C (body core temperature), spermatocytes show aberrant chromosome pairing and undergo cell death. (scitechdaily.com)
  • People with learning disabilities with covid-19 are five times more likely to be admitted to hospital and eight times more likely to die compared with the general population of England, finds a study published by The BMJ today. (news-medical.net)
  • The discrepant regions (~ 21.6 Mbp) excluding telomeric and centromeric regions are highly structurally polymorphic in humans, where the deletions or duplications are likely associated with various human diseases, such as immune and neurodevelopmental disorders. (bvsalud.org)
  • Additionally, a range of uncertainty factors were considered for deriving OELs that correspond to each band, including interspecies extrapolation, human variability, and severity of effects. (cdc.gov)
  • The signs and symptoms of recombinant 8 syndrome are related to the loss and addition of genetic material on these regions of chromosome 8. (medlineplus.gov)
  • Twenty-eight HBoV1 DNA-positive NPA samples were collected from a group of children who were admitted for elective surgery and who had exhibited no signs or symptoms of RTI during the previous 2 weeks. (cdc.gov)
  • People with dup15q syndrome resulting from an interstitial duplication often have milder signs and symptoms than those in whom the disorder results from an isodicentric chromosome 15. (nih.gov)
  • How many teeth do adult humans have? (quizly.co)
  • 7. Physical and transcriptional map of a 311-kb segment of chromosome 18q21, a candidate lung tumor suppressor locus. (nih.gov)
  • Trichorhinophalangeal syndrome type II (TRPS II) is caused by a deletion of genetic material on the long (q) arm of chromosome 8. (medlineplus.gov)
  • 13. The 630-kb lung cancer homozygous deletion region on human chromosome 3p21.3: identification and evaluation of the resident candidate tumor suppressor genes. (nih.gov)
  • The deletion occurs on the q arm of the chromosome at a position designated q13.3. (nih.gov)
  • Translocations of genetic material between chromosome 8 and other chromosomes can cause 8p11 myeloproliferative syndrome. (medlineplus.gov)
  • A type of blood cancer known as core binding factor acute myeloid leukemia (CBF-AML) is associated with a rearrangement (translocation) of genetic material between chromosomes 8 and 21. (medlineplus.gov)
  • Recombinant 8 syndrome is caused by a rearrangement of genetic material on chromosome 8. (medlineplus.gov)
  • An isodicentric chromosome contains mirror-image segments of genetic material and has two constriction points (centromeres), rather than one centromere as in normal chromosomes. (nih.gov)
  • To date, neither ICVAAM/NICEATM nor any other organization, has conducted an independent technical evaluation of the NTPRB as a method for predicting rodent/human carcinogens and noncarcinogens or as a standard for evaluating the performance of alternative short and medium term tests. (nih.gov)
  • The First Peopling of South America: New Evidence from Y-Chromosome Haplogroup Q. PLoS ONE, 21 August 2013, doi.org/10.1371/journal.pone.0071390. (isogg.org)
  • Epidemiological studies are generally regarded as the best source for evidence of carcinogenicity in humans, but unfortunately evidence is found only after the damage has been done (e.g. (nih.gov)
  • Evidence that cytogenetic biomarkers are positively correlated with cancer risk has been strongly validated in recent results from both cohort and nested case-control studies, leading to the conclusion that chromosome aberrations are a marker of cancer risk ( 3 - 7 ), reflecting the outcome of both the genotoxic effects of carcinogens and individual cancer susceptibility. (aacrjournals.org)
  • HLA-A, -B, and -C. The HLA-B locus is the chains are the variable regions within the antigen (HLA) complex in humans, is most polymorphic of the class I genes,[4] class I genes. (who.int)
  • 1977. Pesticide induced DNA damage and its repair in cultured human cells. (cdc.gov)
  • We have recently reported that this assay is extremely sensitive to genetic damage caused by the tobacco-specific nitrosamine 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK) and that the binucleated cells with micronuclei, nucleoplasmic bridges, and nuclear buds in lymphocytes (chromosome damage endpoints measured by the assay) are strong predictors of lung cancer risk. (aacrjournals.org)
  • First principal component for NNK-induced chromosome damage endpoints (binucleated cells with micronuclei, nucleoplasmic bridges, and nuclear buds) had an area under the curve = 97.9 (95% confidence interval, 95.9-99.0), PPV = 94.8, and NPV = 92.6. (aacrjournals.org)
  • DMSO induces drastic changes in human cellular processes and epigenetic landscape in vitro. (mpg.de)
  • DNA methylation is an epigenetic modification in which a methyl (CH 3 ) group is attached to cytosine, a nucleobase in human DNA. (nature.com)
  • Any one of these could have psycho-social, health or economic impact on unprepared or unwilling human research subjects and/or their families. (harvard.edu)
  • However, some genes on this chromosome, including some of those in the 15q11.2-q13.1 region, are turned on (active) only on the maternal copy. (nih.gov)
  • All animals, including humans, are made up of cells. (whale.to)
  • Resonant THz radiation demethylated living melanoma cells by 19%, with no significant occurrence of apurinic/apyrimidinic sites, and the demethylation ratio was linearly proportional to the power of THz radiation. (nature.com)
  • For the human mtDNA haplogroup, see Haplogroup G (mtDNA) . (wikipedia.org)
  • Here we present de novo assemblies of 43 Y chromosomes spanning 182,900 years of human evolution and report considerable diversity in size and structure. (bvsalud.org)
  • Supported by a $1.3 million grant from the U.S. Administration for Community Living, Department of Health and Human Services, Indiana University School of Medicine and its partners have launched a 36-month venture to enhance, strengthen and expand supports for people with Alzheimer's Disease and Related Dementias (ADRD) and their caregivers in 34 Indiana counties. (news-medical.net)
  • Category - based on the U.S. Department of Health and Human Services (HHS) Recommended Uniform Screening Panel . (nih.gov)
  • The National Institute of Environmental Health Sciences (NIEHS) is expanding and accelerating its contributions to scientific knowledge of human health and the environment, and to the health and well-being of people everywhere. (nih.gov)
  • The HLA region on chromosome 6. (who.int)
  • Dup15q syndrome is caused by the presence of at least one extra copy of a region of chromosome 15 called 15q11.2-q13.1. (nih.gov)
  • Finally, our data suggest that the boundary between the recombining pseudoautosomal region 1 and the non-recombining portions of the X and Y chromosomes lies 500 kb away from the currently established1 boundary. (bvsalud.org)
  • The sex chromosomes of eutherian and marsupial mammals share extensive homology, although the marsupial sex chromosomes lack the autosomal added region that was added to the eutherian X and Y [ 1 ], so are smaller than those of eutherian mammals. (biomedcentral.com)
  • 19. Limiting the location of putative human prostate cancer tumor suppressor genes on chromosome 18q. (nih.gov)
  • The development of the human blood-CSF-brain barrier. (cdc.gov)
  • Defining a New Rate Constant for Y-Chromosome SNPs based on Full Sequencing Data. (isogg.org)
  • This report summarizes the epidemiology of human papillomavirus (HPV) and associated diseases, describes the licensed HPV vaccines, provides updated data from clinical trials and postlicensure safety studies, and compiles recommendations from CDC's Advisory Committee on Immunization Practices (ACIP) for use of HPV vaccines. (cdc.gov)
  • Are they indeed responsible for the emergence of the new viral diseases that are increasingly affecting humans and domestic animals? (encyclopedie-environnement.org)