Chromosomes: 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)Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Chromosome Banding: 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.X Chromosome: 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.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Sex Chromosomes: 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)Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human: 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.Chromosomes, Bacterial: Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosome Segregation: The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 11: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 6: A specific pair GROUP C CHROMSOMES of the human chromosome classification.Chromosome Deletion: Actual loss of portion of a chromosome.Chromosomes, Human, Pair 9: A specific pair of GROUP C CHROMSOMES of the human chromosome classification.Chromosomes, Human, Pair 21: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosomes, Plant: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.Chromosomes, Fungal: Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosomes, Human, 6-12 and X: 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.Chromosomes, Human, Pair 2: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human, Pair 16: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosome Pairing: The alignment of CHROMOSOMES at homologous sequences.Chromosomes, Human, Pair 13: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Mammalian: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.Chromosomes, Human, Pair 4: A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 10: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 19: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 8: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Y: The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.Chromosome Disorders: 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)Chromosomes, Artificial, Bacterial: 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.Chromosomes, Human, Pair 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 5: One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).Chromosomes, Human, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.Chromosome Painting: 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.Chromosomes, Human, 1-3: The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.Chromosomes, Human, Pair 15: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Karyotyping: Mapping of the KARYOTYPE of a cell.Chromosomes, Human, Pair 14: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 18: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 20: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.In Situ Hybridization, Fluorescence: 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.Chromosomes, Human, 16-18: The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.Chromosomes, Artificial, Yeast: 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.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Chromosomes, Human, 13-15: The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.Chromosome Breakage: A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.Chromosomes, Human, 21-22 and Y: 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.Molecular Sequence Data: 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.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Ring Chromosomes: Aberrant chromosomes with no ends, i.e., circular.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Chromosome Inversion: 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.Chromosome Positioning: The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.Chromosomes, Human, 4-5: The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.X Chromosome Inactivation: 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.Centromere: 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.Meiosis: 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.Chromosomes, Insect: Structures within the CELL NUCLEUS of insect cells containing DNA.Translocation, Genetic: A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.Hybrid 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.Chromosome Structures: Structures which are contained in or part of CHROMOSOMES.Chromosomes, Human, 19-20: The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.Aneuploidy: 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).Metaphase: 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.Mitosis: 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.Recombination, Genetic: 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.Mutation: 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.Microsatellite Repeats: 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).Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."Pedigree: 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.Crosses, Genetic: 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.Cloning, Molecular: 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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.DNA: 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).Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Amino Acid Sequence: 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.Nucleic Acid Hybridization: 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)Models, Genetic: 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.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Nondisjunction, Genetic: 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.Kinetochores: Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.Chromosomes, Artificial, Human: 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.Telomere: 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.Blotting, Southern: 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.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Genes: 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.Chromosome Walking: 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.Polymerase Chain Reaction: 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.Chromosomal Proteins, Non-Histone: 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.Haplotypes: 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.Repetitive Sequences, Nucleic Acid: 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).Spindle Apparatus: 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.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Chromosomal Instability: An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Chromosome Fragility: Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.DNA Probes: 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.Chromosome Duplication: An aberration in which an extra chromosome or a chromosomal segment is made.DNA, Satellite: 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.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.Diploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.Plasmids: 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.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Chromatids: 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)Multigene Family: 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)Genetic Variation: Genotypic differences observed among individuals in a population.DNA-Binding Proteins: 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.Mosaicism: 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.DNA Replication: The process by which a DNA molecule is duplicated.Polyploidy: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.Abnormalities, MultipleDNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Gene Deletion: 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.Polymorphism, Genetic: 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.Species Specificity: 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.Sequence Homology, Nucleic Acid: 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.Polytene Chromosomes: Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.Escherichia coli: 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.Nuclear Proteins: 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.Gene Dosage: 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.Prophase: 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.Interphase: 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).Cell Cycle Proteins: 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.Saccharomyces cerevisiae: 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.Loss of Heterozygosity: 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.Karyotype: 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)Cosmids: Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Cytogenetic Analysis: 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.Chromatin: 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.Cytogenetics: 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.Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.Genome, Human: 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.Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.Polymorphism, Restriction Fragment Length: 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.Cell Line: Established cell cultures that have the potential to propagate indefinitely.DNA Transposable Elements: 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.DNA Primers: 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.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Chromosome Fragile Sites: 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.)Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Sequence Tagged Sites: 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.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.Spermatocytes: 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.Monosomy: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.Genes, X-Linked: Genes that are located on the X CHROMOSOME.Sex Chromosome Disorders: Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Sequence Alignment: 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.Cell Nucleus: Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Genes, Bacterial: The functional hereditary units of BACTERIA.Azure Stains: PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.Contig Mapping: Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.DNA Restriction Enzymes: 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.Homozygote: An individual in which both alleles at a given locus are identical.Philadelphia Chromosome: 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).Chromosome Breakpoints: The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.Gene Duplication: Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.Exons: 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.Chromosomes, Archaeal: Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.Haploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.Ploidies: The degree of replication of the chromosome set in the karyotype.Genetic Loci: 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.Hybridization, Genetic: The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.Drosophila: 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.Genome, Plant: The genetic complement of a plant (PLANTS) as represented in its DNA.Base Pairing: Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA.Gene Amplification: 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.DNA, Fungal: Deoxyribonucleic acid that makes up the genetic material of fungi.Genomic Imprinting: 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)Sex Chromatin: In the interphase nucleus, a condensed mass of chromatin representing an inactivated X chromosome. Each X CHROMOSOME, in excess of one, forms sex chromatin (Barr body) in the mammalian nucleus. (from King & Stansfield, A Dictionary of Genetics, 4th ed)Genes, Lethal: Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.DNA, Neoplasm: DNA present in neoplastic tissue.DNA, Complementary: 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.Histones: 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.Intellectual Disability: 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)Microtubules: 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.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Syndrome: A characteristic symptom complex.Pachytene Stage: The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.Sister Chromatid Exchange: 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.Bacterial Proteins: Proteins found in any species of bacterium.Chromosomes, Artificial: DNA constructs that are composed of, at least, elements such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, that are required for successful replication, propagation to and maintenance in progeny cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Gene Library: 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.Nucleic Acid Conformation: The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.Introns: Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.Quantitative Trait, Heritable: A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)Triticum: 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, Y-Linked: Genes that are located on the Y CHROMOSOME.Biological Evolution: The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.Euchromatin: Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.Genomic Library: A form of GENE LIBRARY containing the complete DNA sequences present in the genome of a given organism. It contrasts with a cDNA library which contains only sequences utilized in protein coding (lacking introns).Sex Determination Processes: The mechanisms by which the SEX of an individual's GONADS are fixed.

Novel regions of allelic deletion on chromosome 18p in tumors of the lung, brain and breast. (1/992)

Lung cancer is now the number one cause of cancer death for both men and women. An age-adjusted analysis over the past 25 years shows that in women specifically, lung cancer incidence is on the rise. It is estimated that 10-20 genetic events including the alteration of oncogenes and tumor suppressor genes will have occurred by the time a lung tumor becomes clinically evident. In an effort to identify regions containing novel cancer genes, chromosome 18p11, a band not previously implicated in disease, was examined for loss of heterozygosity (LOH). In this study, 50 matched normal and NSCLC tumor samples were examined using six 18p11 and one 18q12.3 PCR-based polymorphic markers. In addition, LOH was examined in 29 glioblastoma pairs and 14 paired breast carcinomas. This analysis has revealed potentially two regions of LOH in 18p11 in up to 38% of the tumor samples examined. The regions of LOH identified included a 2 cm area between markers D18S59 and D18S476, and a more proximal, 25 cm region of intermediate frequency between D18S452 and D18S453. These results provide evidence for the presence of one or more potential tumor suppressor genes on the short arm of chromosome 18 which may be involved in NSCLC, brain tumors and possibly breast carcinomas as well.  (+info)

Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in a boy with a ring chromosome 18: additional evidence of autoimmunity or IDDM gene(s) on chromosome 18. (2/992)

A 4 year 3 month old boy with insulin dependent diabetes mellitus (IDDM), autoimmune thyroiditis, slight mental retardation, facial dysmorphism, and a de novo ring chromosome 18 (deletion 18q22.3-18qter) is described. This unique association of defects could represent a chance association. Alternatively, the clinical features could be the result of the chromosomal aberration. If so, one could speculate that a gene or genes on chromosome 18 might act as a suppressor or activator of the autoimmune process by itself or in concert with other IDDM loci.  (+info)

Loss of heterozygosity at 18q21 is indicative of recurrence and therefore poor prognosis in a subset of colorectal cancers. (3/992)

Adjuvant therapies are increasingly used in colorectal cancers for the prevention of recurrence. These therapies have side-effects and should, thus, be used only if really beneficial. However, the development of recurrence cannot be predicted reliably at the moment of diagnosis, and targeting of adjuvant therapies is thus based only on the primary stage of the cancer. Loss of heterozygosity (LOH) in the long arm of chromosome 18 is suggested to be related to poor survival and possibly to the development of metastases. We studied the value of LOH at 18q21 as a marker of colorectal cancer prognosis, association with clinicopathological variables, tumour recurrence and survival of the patients. Of the 255 patients studied, 195 were informative as regards LOH status when analysed in primary colorectal cancer specimens using the polymerase chain reaction (PCR) and fragment analysis. LOH at 18q21 was significantly associated with the development of recurrence (P = 0.01) and indicated poor survival in patients of Dukes' classes B and C, in which most recurrences (82%) occurred. An increased rate of tumour recurrence is the reason for poor survival among patients with LOH at 18q21 in primary cancer. These patients are a possible target group for recurrence-preventing adjuvant therapies.  (+info)

An integrated map of chromosome 18 CAG trinucleotide repeat loci. (4/992)

Expansions of trinucleotide CAG repeats have been demonstrated in at least eight neurodegenerative disorders, and suggested to occur in several others, including bipolar disorder and schizophrenia. Chromosome 18 loci have been implicated in bipolar disorder pedigrees by linkage analysis. To address this putative link between chromosome 18 CAG trinucleotide repeats and neuropsychiatric illness, we have screened a chromosome 18 cosmid library (LL18NCO2" AD") and identified 14 novel candidate loci. Characterisation of these loci involved repeat flank sequencing, estimation of polymorphism frequency and mapping using FISH as well as radiation hybrid panels. These mapped trinucleotide loci will be useful in the investigation of chromosome 18 in neurodegenerative or psychiatric conditions, and will serve to integrate physical and radiation hybrid maps of chromosome 18.  (+info)

Detection of t(14;18) carrying cells in bone marrow and peripheral blood from patients affected by non-lymphoid diseases. (5/992)

AIMS/BACKGROUND: To assess the presence of bcl-2/JH rearrangements in bone marrow and peripheral blood lymphocytes from patients affected by diseases other than malignant lymphomas. The t(14;18) (q32;q21) translocation, which juxtaposes the bcl-2 oncogene on chromosome 18 and the JH segment of the immunoglobulin heavy chain (IgH) genes on chromosome 14, is found frequently in follicular lymphomas. METHODS: A sensitive semi-nested polymerase chain reaction (PCR) was used to detect t(14;18) translocation in bone marrow aspirates and peripheral blood lymphocytes from 48 patients. In 137 additional individuals peripheral blood lymphocytes only were tested. RESULTS: Cells carrying bcl-2/JH rearrangements were detected in about a quarter of the bone marrow samples and half of the peripheral blood lymphocyte samples. In seven patients, t(14;18) positive cells were found in both the bone marrow and peripheral blood lymphocyte samples. The size of the PCR products and bcl-2/JH DNA sequence analysis showed that the same t(14;18) carrying clone was present in the bone marrow and the corresponding peripheral blood lymphocyte samples in three of these seven patients. Some patients had more than one bcl-2/JH rearrangement. There was no significant correlation between age and the translocation incidence. Cells carrying the t(14;18) translocation were present in peripheral blood lymphocyte samples with a similar incidence--between 47% and 52% in all age groups from 20 to 79 years. Patients older than 80 years had a lower (37%) but not significantly different incidence. CONCLUSIONS: These findings suggest that patients affected by non-lymphoid diseases may have several t(14;18) carrying cells and some of them undergo a clonal expansion. Whether individuals with t(14;18) positive cells are at a higher risk of lymphoid malignancies remains unanswered and further epidemiological studies are required.  (+info)

Asynchronous replication of alleles in genomes carrying an extra autosome. (6/992)

Transcriptional activity of genes appears to be highly related to their replication timing; alleles showing the common biallelic mode of expression replicate highly synchronously, whereas those with a monoallelic mode of expression replicate asynchronously. Here we used FISH to determine the level of synchronisation in replication timing of alleles in amniotic fluid cells derived from normal foetuses and from those with either of the trisomies for autosomes 21, 18 or 13, or for sex chromosomes (47,XXX and 47,XXY). Two pairs of alleles, not associated with the extra chromosome, were studied in subjects with each trisomy and three in normal subjects. In cells derived from normal foetuses and from foetuses with sex chromosome trisomies, each pair of alleles replicated synchronously; yet these very same alleles replicated asynchronously in cells derived from foetuses with trisomy for any of the three autosomes studied. The results suggest that the gross phenotypic abnormalities associated with an extra autosome are brought about not only by over-expression of genes present in three doses, but also by modifications in the expression of genes present in the normal two doses.  (+info)

Correlation of bcl-2 rearrangement with clinical characteristics and outcome in indolent follicular lymphoma. (7/992)

The t(14;18) translocation, which involves the bcl-2 oncogene, occurs in follicular lymphomas (FL) at two common sites: the major breakpoint region (MBR) and the minor cluster region (mcr). The biological and clinical significance of these breakpoints is unknown. The bcl-2 breakpoint site was determined in 247 previously untreated patients (49% men; median age 52 years) with indolent FL (155 grade I, 83 grade II, and 8 grade III) to correlate it with pretreatment characteristics, response, and outcome. The bcl-2 breakpoint site was determined by a polymerase chain reaction method of peripheral blood (all cases), bone marrows (149 cases), and fresh lymph node biopsy specimens (68 cases). The breakpoint site occurred at MBR in 175 cases (71%) and at mcr in 27 (11%). In 45 cases (18%), no breakpoint was detected (germline). No significant relationship was found between the rearrangements and the expression of BLC-2 and BAX proteins. Patients' germline for MBR and mcr tended to present more frequently with stage IV disease and higher beta2-microglobulin (beta2M) levels, whereas mcr-rearranged patients presented more frequently with early stage and normal beta2M. The complete response rate of germline patients was significantly lower than that of MBR and mcr patients. An estimated 3-year failure-free survival (FFS) for mcr, MBR, and germline cases was 95%, 76%, and 57%, respectively (P <.001). The bcl-2 breakpoint site was independent of serum beta2M and lactate dehydrogenase in its correlation with FFS. In conclusion, the bcl-2 rearrangement site is an important prognostic factor in indolent FL, useful to identify patients who may require different treatment.  (+info)

Lymphatic vessel hypoplasia in fetuses with Turner syndrome. (8/992)

Turner syndrome is associated with subcutaneous accumulation of fluid in the neck region that can be visualized sonographically from 10-14 weeks of gestation as massively increased nuchal translucency thickness. Possible mechanisms for this increased translucency include dilatation of the jugular lymphatic sacs because of developmental delay in the connection with the venous system, or a primary abnormal dilatation or proliferation of the lymphatic channels interfering with a normal flow between the lymphatic and venous systems. The aim of this study was to investigate the distribution of lymphatic vessels in nuchal skin tissue from fetuses with Turner syndrome compared with fetuses carrying trisomies 21, 18 and 13 and chromosomally normal controls. The distribution of vessels was examined by immunohistochemistry using a monoclonal antibody, PTN63, against 5' nucleotidase and an anti-laminin antibody. In normal control fetuses (n = 6) and those with trisomies 21 (n = 3), 18 (n = 2) and 13 (n = 2), PTN63-positive and laminin-positive vessels were evenly distributed throughout the dermis and subcutis. In Turner syndrome (n = 3), there was a chain of large vessels that stained with both PTN63 and laminin at the border between dermis and subcutis, but there was scarcity of vessels in the upper dermis and the subcutis. Using PTN63 alone, there were no positive vessels in the upper dermis. We conclude that in Turner syndrome lymphatic vessels in the upper dermis are hypoplastic.  (+info)

Enables deprecated DOS compatible mode, in this mode library checks for cylinders boundary, cases about CHS addressing and another obscure things.. ...
浜松市城西浄化センターにおけるMBRの初期運転について (第46回下水道研究発表会講演集) (2009 ...
Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by the presence of all, or part of a third copy of chromosome 18. Many parts of the body are affected. Babies are often born small and have heart defects. Other features include a small head, small jaw, clenched fists with overlapping fingers, and severe intellectual disability. Most cases of Edwards syndrome occur due to problems during the formation of the reproductive cells or during early development. The rate of disease increases with the mothers age. Rarely cases may be inherited from a persons parents. Occasionally not all cells have the extra chromosome, known as mosaic trisomy, and symptoms in these cases may be less severe. Ultrasound can increase suspicion for the condition, which can be confirmed by amniocentesis. Treatment is supportive. After having one child with the condition, the risk of having a second is typically around one percent. It is the second-most frequent condition due to a third chromosome at ...
Information about Edwards Syndrome and Trisomy 18 Disorder. Cerys Watts was born with a genetic disorder called Edwards Syndrome, and this is her story.
What is Edwards Syndrome Edwards syndrome is a genetic disorder characterized by the presence of an additional copy of chromosome 18 instead of just a pair. It
What is Edwards Syndrome - pictures, symptoms, life expectancy, treatment, causes. Edwards Syndrome is three times more common in girls than boys
Edwards syndrome, also called Trisomy 18, is a genetic disorder in babies that causes severe disability. It is caused by an extra copy of chromosome 18.
Clinical Management. The survival rate of Edwards Syndrome is very low. About 95% die in utero. Of liveborn infants, only 50% live to 2 months, and only 5-10% will survive their first year of life. Major causes of death include apnea and heart abnormalities. It is impossible to predict the exact prognosis of an Edwards Syndrome child during pregnancy or the neonatal period. Because major medical interventions are routinely withheld from these children, it is difficult to determine what the survival rate or prognosis would be with aggressive medical treatment. The median life span is five to fifteen days. One percent of children born with this syndrome live to age ten, typically in cases of the less severe, mosaic Edwards syndrome.. ...
There are 23 pairs of human chromosomes. In Trisomy 18 (Edwards syndrome), there is an extra chromosome with the 18th pair. Like Trisomy 21 (Down syndrome), Trisomy 18 affects all systems of the body and causes distinct facial features. Trisomy 18 occurs in 1 in 3,000 live births.It is three times more common in girls than boys. Unfortunately, most babies with Trisomy 18 die before birth, so the actual incidence of the disorder may be higher.Infants who survive, experience serious defects and commonly live for short periods of time. Trisomy 18 affects individuals of all ethnic backgrounds. Trisomy 18 severely affects all organ systems of the body.The majority of children who are born with Edwards syndrome do not live past their first year of life. Their average lifespan for half of the children born with this syndrome is less than two months; approximately ninety to ninety-five percent of these children die prior to their first birthday. The five to ten-percent of children who do survive their ...
There are 23 pairs of human chromosomes. In Trisomy 18 (Edwards syndrome), there is an extra chromosome with the 18th pair. Like Trisomy 21 (Down syndrome), Trisomy 18 affects all systems of the body and causes distinct facial features. Trisomy 18 occurs in 1 in 3,000 live births.It is three times more common in girls than boys. Unfortunately, most babies with Trisomy 18 die before birth, so the actual incidence of the disorder may be higher.Infants who survive, experience serious defects and commonly live for short periods of time. Trisomy 18 affects individuals of all ethnic backgrounds. Trisomy 18 severely affects all organ systems of the body.The majority of children who are born with Edwards syndrome do not live past their first year of life. Their average lifespan for half of the children born with this syndrome is less than two months; approximately ninety to ninety-five percent of these children die prior to their first birthday. The five to ten-percent of children who do survive their ...
In 2008/2009, 495 diagnoses of Edwards syndrome (trisomy 18) were made in England and Wales, 92% of which were made prenatally, resulting in 339 abortions, 49 stillbirths/miscarriages/fetal deaths, 72 unknown outcomes, and 35 live births. Because about 3% of cases with unknown outcomes are likely to result in a live birth, the total number of live births is estimated to be 37 (2008/09 data are provisional). Major causes of death include apnea and heart abnormalities. It is impossible to predict an exact prognosis during pregnancy or the neonatal period. Half of the infants with this condition do not survive beyond the first week of life. The median lifespan is five to 15 days. About 8% of infants survive longer than 1 year. One percent of children live to age 10, typically in less severe cases of the mosaic Edwards syndrome ...
Just like the subject line says, our FISH results have come back positive for trisomy 18 and we are waiting for full results for mosaic or not. Right now baby is only a week behind in growth, very active with no signs of a malformed - page 9
Screening Tests in Pregnancy - Screening for Trisomies Downs Syndrome, Pataus Syndrome and Edwards Syndrome. Combined Screening, Quadruple Test and Non Invasive Prenatal Testing (NIPT) These syndromes are also called trisomies. We have 23 pairs of chromosomes as humans. The above syndromes ari
Trisomy 18, also known as Edwards syndrome, is where a child has three of the 18th chromosome. Most people have two of each chromosome, one from mom and one from dad. In a trisomy, the child gets two of one chromosome from one parent and one from the other. Think tricycle, three.. Imagine if you made a batch of cookies and it called for two cups of sugar. Sugar is good, its necessary for the cookies to turn out the way you expect them to. But instead, you put in three cups. You then proceed to mix and bake the cookies ...
Trisomy 18, also known as Edwards syndrome, is where a child has three of the 18th chromosome. Most people have two of each chromosome, one from mom and one from dad. In a trisomy, the child gets two of one chromosome from one parent and one from the other. Think tricycle, three.. Imagine if you made a batch of cookies and it called for two cups of sugar. Sugar is good, its necessary for the cookies to turn out the way you expect them to. But instead, you put in three cups. You then proceed to mix and bake the cookies ...
Trisomy 18 is a genetic disorder caused by a chromosomel defect. This is not due to inherent defect in any chromosome, rather the affected individuals have an additional copy of chromosome 18. Trisomy 18 is also called Edwards syndrome.
Edward Syndrome, trisomy E Definition: Trisomy 18 (1/5000 live births) presents with a great phenotypic variability. Intrauterine growth (...)
Pregnant women are offered screening for Edwards syndrome between 10 and 14 weeks of pregnancy to assess the chances of their baby having the condition.. This screening test is known as the combined test, and it also screens for Downs syndrome and Pataus syndrome.. During the combined test you will have a blood test and a special ultrasound scan where the fluid at the back of the babys neck (nuchal translucency) is measured.. Read more about screening for Edwards syndrome at 10-14 weeks.. If the combined test shows that you have a higher risk of having a baby with Edwards syndrome, you will be offered a diagnostic test to find out for certain if your baby has the condition.. This involves analysing a sample of your babys cells to check if they have an extra copy of chromosome 18.. There are two different ways of getting this sample of cells - chorionic villus sampling, which collects a sample from the placenta, or amniocentesis, which collects a sample of the amniotic fluid from around ...
Edwards Syndrome : Edwards Syndrome (Trisomy 18) is a chromosomal abnormality where there is an extra chromosome present in every cell of the body. This is an example of where "the more the merrier" is not true. This extra chromosome means that every cell has extra information encoded into it. The extra information causes confusion in the way that the cells are formed and results in the potential malformation of all of the body systems. Sadly, this condition is considered "not compatible with life". Just like with Downs Syndrome (Trisomy 21), there is a wide range of how this condition will play out (what the doctors will refer to as your childs phenotype). Unfortunately because there is more information encoded on the 18th chromosome, the severity of this condition is greater than that of Downs Syndrome. Current studies show that while 1:1500 children will be diagnosed prenatally with trisomy 18, only half that number (or 1:3000) will be born alive at full term. Of those who survive to ...
Edwards Syndrome : Edwards Syndrome (Trisomy 18) is a chromosomal abnormality where there is an extra chromosome present in every cell of the body. This is an example of where "the more the merrier" is not true. This extra chromosome means that every cell has extra information encoded into it. The extra information causes confusion in the way that the cells are formed and results in the potential malformation of all of the body systems. Sadly, this condition is considered "not compatible with life". Just like with Downs Syndrome (Trisomy 21), there is a wide range of how this condition will play out (what the doctors will refer to as your childs phenotype). Unfortunately because there is more information encoded on the 18th chromosome, the severity of this condition is greater than that of Downs Syndrome. Current studies show that while 1:1500 children will be diagnosed prenatally with trisomy 18, only half that number (or 1:3000) will be born alive at full term. Of those who survive to ...
trisomy 18,trisomy 13,trisomy,patau syndrome,Edwards syndrome,SOFT,chromosome disorder,screening test,prenatal testing,what is trisomy 18,what is trisomy 13, what is trisomy
trisomy 18,trisomy 13,trisomy,patau syndrome,Edwards syndrome,SOFT,chromosome disorder,screening test,prenatal testing,what is trisomy 18,what is trisomy 13, what is trisomy
Trisomy 18 can also be called Edwards syndrome - three number 18 chromosomes in every cell, and trisomy 13 can also be called Patau syndrome - three number 13 chromosomes in every cell. The extra chromosome interferes with normal development, but these tr
Welcome to a website that supports families caring for a child with trisomy 18, Edwards syndrome, or trisomy 13, Pataus syndrome, mosaic trisomy, or bereaved families who have suffered a loss from one of these chromosome disorders.
Welcome to a website that supports families caring for a child with trisomy 18, Edwards syndrome, or trisomy 13, Pataus syndrome, mosaic trisomy, or bereaved families who have suffered a loss from one of these chromosome disorders.
Edwards syndrome, Patau syndrome, and other genetic disorders are trisomies, just like Down syndrome. Learn more about these lesser-known disorders.
Sabrina is 15 yrs old, she was born with trisomy 18 (edwards syndrome). She has 5 siblings, she is the youngest. She started attending school full time in Sept. 2008. Before that she went twice a week for therapy. Her immune system was very low, she is doing a lot better now. She likes other kids, babies, puppies and the color yellow. She does not attend school any more, it is to physically demanding for her body. She love it when her siblings play with her ...
Sabrina is 15 yrs old, she was born with trisomy 18 (edwards syndrome). She has 5 siblings, she is the youngest. She started attending school full time in Sept. 2008. Before that she went twice a week for therapy. Her immune system was very low, she is doing a lot better now. She likes other kids, babies, puppies and the color yellow. She does not attend school any more, it is to physically demanding for her body. She love it when her siblings play with her ...
Answers from specialists on edward fruitman. First: If you want to find the right breast surgeon, for your family members care, you have to make some personal enquireies about any surgeon like the following. 1) some one you know treated by that surgeon, is the best reference. 2) your family physician whom you trust, will advise you. 3) qualifications like board certified , had teaching experence etc 4) finally should consult , and decide
Trisomy 18 and 13 What are trisomies? The term trisomy is used to describe the presence of three chromosomes, rather than the usual pair of chromosomes. For example, if a baby is born with three #21 chromosomes, rather than the usual pair, the baby would be said to have trisomy 21. Trisomy 21 is also known as Down syndrome. Other examples of trisomy include trisomy 18 and trisomy 13. Again, trisomy 18 or trisomy 13 simply means there are three copies of the #18 chromosome (or of the #13 chromosome) pr...
If you have a family member with Distal Trisomy 10q, we invite you to share in our community. Reasons to join are: To share your childs stories
ThinkGenetic strives to create, update and review content regularly to ensure the information we provide is accurate, referenced and available 24/7 to our audience. If you wish to see your… CONTINUE ...
It wasnt the news first-time mother Audrey Doyle expected to hear at her 20-week ultrasound. Doctors had discovered irregularities with her babys heart and concerning clenched little hands. Scans revealed Audreys baby had been diagnosed with Trisomy 18, a genetic condition also called Edwards Syndrome. Babies with Trisomy 18 have an extra chromosome in some or all of their bodys cells. The complications can be life-threatening in the early months and years of life.. Over countless appointments at BC Womans Hospital Health Centre, Audrey and her husband Mike were told the prognosis of their little girl. Some babies arent able to be carried to term and only 5-10 percent of babies born with Trisomy 18 live beyond their first birthday.. The couple met with doctors and was presented with the statistics and clinical outcomes. They were told a representative from Canuck Place Childrens Hospice would join their medical team to provide perinatal care planning. In between a series of medical ...
Screening can provide some information about the chance of your baby having Down syndrome or another condition. The screening options available provide a risk estimate for Down syndrome (trisomy21), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome) and some other rare genetic disorders.
Rick and Karen Santorum share the inspiring story of life with their special-needs youngest child. On May 13, 2008, the Santorum family welcomed their eighth child into the world. Isabella Maria was born with a rare genetic condition called Trisomy 18, or Edwards Syndrome. Only 10 percent of children with Trisomy 18 are born alive, and 90 percent of those children do not make it to their first birthday. Faced with these bleak statistics, doctors told the family to prepare for Bellas death. Instead, they chose to celebrate her life. Over the next six miraculous years, the Santorum family adjusted to life with a special needs girl--and watched her transform the lives of everyone around her. In many days of sickness and joy, she became an inspiration to her community and, ultimately, to the nation. Bellas Gift details the peaks and valleys, the joys and sufferings, and the incredible value of life with a special needs child. In a world that often measures worth according to usefulness, Bellas story is
Sarah recounted how Sean was prenatally diagnosed with Trisomy 18, also known as Edwards syndrome, at 21 weeks. She was told he probably wouldnt survive the pregnancy and was unlikely to live long after birth. Sarah was given the option to terminate her pregnancy but Sarah said that she didnt think it was her place to end her sons life. Sarah told Pat and his listeners, "Its not up to me to end his life. Im his mother, it was my job to protect him, I wanted to give him that chance, I just couldnt give up on him ...
trisomy 18 is the second most common type of trisomy syndrome, after trisomy 21 (down syndrome). about one in every 5,000 babies is born with trisomy 18, and most are female.
Is there a correlation between trisomy 18 and autism - Is there a correlation between trisomy 18 and autism? Not really. Trisomy 18 is a severe syndrome that significantly affects the brain and its development. A child with autistic like behaviors who has trisomy 18, is a trisomy-18 patient, not an autism patient.
Trisomy 13 and trisomy 18 are genetic disorders. They include a combination of birth defects. This includes severe learning problems and health problems that affect nearly every organ in the body.
Trisomy 13 and trisomy 18 are genetic disorders. They include a combination of birth defects. This includes severe learning problems and health problems that affect nearly every organ in the body.
Trisomy 13 and trisomy 18 are genetic disorders. They include a combination of birth defects. This includes severe learning problems and health problems that affect nearly every organ in the body.
Trisomy 18 is a genetic condition related to the presence of an extra chromosome 18 caused by a problem that occurs when cells divide in the egg, sperm, or fertilized egg. The extra chromosome causes the fetus to develop abnormally with a number of physical and mental problems.. Trisomy 18 is also called Edwards syndrome. It is the second most common trisomy condition. (Down syndrome is the most common.) A fetus with trisomy 18 has three copies of chromosome 18 in each cell.. Trisomy 18 can be identified during pregnancy. Doctors can do prenatal tests and fetal ultrasounds to screen for problems, and they can do chromosome tests to diagnose trisomy 18.. Many fetuses with trisomy 18 do not survive to birth, but some are born and live a couple of months to a couple of years. Babies born with trisomy 18 can have heart and kidney problems, a small head with low-set ears, a chest with an unusual shape, and crossed legs. They also have severe intellectual disability. ...
TY - JOUR. T1 - FDG-PET in a patient with gastric MALT lymphoma.. AU - Liu, Jean Dean. AU - Tai, Cheng Jeng. AU - Chang, Chun Chao. AU - Lin, Yun Ho. AU - Hsu, Chung Huei. PY - 2006. Y1 - 2006. UR - http://www.scopus.com/inward/record.url?scp=39049173967&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=39049173967&partnerID=8YFLogxK. U2 - 10.1080/02841860600724401. DO - 10.1080/02841860600724401. M3 - Article. C2 - 16938819. AN - SCOPUS:39049173967. VL - 45. SP - 750. EP - 752. JO - Acta Oncologica. JF - Acta Oncologica. SN - 0284-186X. IS - 6. ER - ...
Prenatal and newborn genetic testing is referred to the utilization of screening/diagnostic procedures for a fetus or a new born baby to detect chromosomal abnormalities such as Down syndrome, Patau syndrome and Edward syndrome. These testing procedures enable detection of certain genetic abnormalities in as early as 8 to 10 weeks of gestation and also help to determine the sex of the fetus. According to Northwestern Medical Faculty Foundation, Down syndrome, open neural tube defects and trisomy 18 are the birth defects that 85% of women are advised to be screened or tested during pregnancy. Whereas, there are some tests which provides information about trisomy 13 and other chromosome abnormalities. Prenatal and newborn genetic tests are of two types, diagnostic and screening tests. Diagnostic tests helps to confirm the presence of certain genetic conditions in a fetus or a new born baby, while screening tests detects the chance of development of certain genetic abnormalities in a fetus or new ...
Looking for online definition of trisomies in the Medical Dictionary? trisomies explanation free. What is trisomies? Meaning of trisomies medical term. What does trisomies mean?
... , Authors: Antonio Cuneo, Gianluigi Castoldi. Published in: Atlas Genet Cytogenet Oncol Haematol.
Caleb Nathaniel Adamyk is celebrating his second Christmas, despite predictions he wouldnt live past birth. Born March 20, 2009, with Edwards syndrome (also known as Trisomy 18), Caleb has had to overcome a host of physical maladies that could have ended his life at any time.
Ive done all the personality tests. I know who I was, when I worked in HR. But who am I now? Mostly Im Aylas mum. My life revolves around her needs, which are complex and pretty full on most of the time. It doesnt leave much time for other stuff. Im OK with that. I love being her mum, for however long she stays with us. She has Edwards Syndrome, trisomy 18. She is my little miracle, who is redefining the classification of not compatible with life ...
Last Friday I waved goodbye to my little boy, born at 22 weeks after termination due to trisomy 18. I still cant get over the feeling of grindin
Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. The extra genetic material disrupts normal development, causing multiple and complex organ defects. This can occur either because each cell contains a full extra copy of chromosome 13 (a disorder known as trisomy 13 or trisomy D), or because each cell contains an extra partial copy of the chromosome (i.e., Robertsonian translocation) or because of mosaic Patau syndrome. Full trisomy 13 is caused by nondisjunction of chromosomes during meiosis (the mosaic form is caused by nondisjunction during mitosis). Like all nondisjunction conditions (such as Down syndrome and Edwards syndrome), the risk of this syndrome in the offspring increases with maternal age at pregnancy, with about 31 years being the average. Patau syndrome affects somewhere between 1 in 10,000 and 1 in 21,700 live births. Of those fetuses that do survive to gestation and ...
Youll be offered a screening test for Pataus syndrome - as well as Downs syndrome (trisomy 21) and Edwards syndrome (trisomy 18) - from 10-14 weeks of pregnancy. The test assesses your chances of having a baby with these syndromes.. The screening test offered at 10-14 weeks of pregnancy is called the combined test because it involves a blood test and an ultrasound scan.. If the screening tests show that you have a higher risk of having a baby with Pataus syndrome, youll be offered a diagnostic test to find out for certain whether your baby has the syndrome.. This test will check your babys chromosomes in a sample of cells taken from him or her. Two techniques can be used to obtain the cell sample - amniocentesis or chorionic villus sampling (CVS). These are invasive tests to remove a sample of tissue or fluid so it can be tested for the presence of the extra copy of chromosome 13.. A newer test has recently been developed where a sample of blood from the mother is taken so that the babys ...
Youll be offered a screening test for Pataus syndrome - as well as Downs syndrome (trisomy 21) and Edwards syndrome (trisomy 18) - from 10-14 weeks of pregnancy. The test assesses your chances of having a baby with these syndromes.. The screening test offered at 10-14 weeks of pregnancy is called the combined test because it involves a blood test and an ultrasound scan.. If the screening tests show that you have a higher risk of having a baby with Pataus syndrome, youll be offered a diagnostic test to find out for certain whether your baby has the syndrome.. This test will check your babys chromosomes in a sample of cells taken from him or her. Two techniques can be used to obtain the cell sample - amniocentesis or chorionic villus sampling (CVS). These are invasive tests to remove a sample of tissue or fluid so it can be tested for the presence of the extra copy of chromosome 13.. A newer test has recently been developed where a sample of blood from the mother is taken so that the babys ...
Noninvasive Method Detects Risk of Down Syndrome. Using a noninvasive test on maternal blood that deploys a novel biochemical assay and a new algorithm for analysis, scientists can detect, with a high degree of accuracy, the risk that a fetus has the chromosomal abnormalities that cause Down syndrome and a genetic disorder known as Edwards syndrome The new approach is more scalable than other recently developed genetic screening tests and has the potential to reduce unnecessary amniocentesis or CVS. Two studies evaluating this approach are available online in advance of publication in the April issue of the American Journal of Obstetrics and Gynecology.. Diagnosis of fetal chromosomal abnormalities, or aneuploidies, relies on invasive testing by chorionic villous sampling or amniocentesis in pregnancies identified as high-risk. Although accurate, the tests are expensive and carry a risk of miscarriage. A technique known as massively parallel shotgun sequencing (MPSS) that analyzes cell-free DNA ...
... is a blood test taken from the mother that uses cutting-edge DNA technology to evaluate with remarkable accuracy whether a pregnancy has a high chance of certain chromosomal conditions - including Trisomy 21 - Downs Syndrome, Trisomy 18 - Edwards Syndrome and Trisomy 13 - Pataus Syndrome. ...
Do You Have Follicular Lymphoma? Join friendly people sharing true stories in the I Have Follicular Lymphoma group. Find forums, advice and chat with groups who share this life experience. A Follicular Lymphoma anonymous support group with informatio...
For patients with Relapsed/Refractory Follicular Lymphoma, second-line therapies are often successful in providing another remission.
Changes in how follicular lymphoma is managed have led to substantial improvement in prognosis and over all survival for patients with the disease.
FDA granted approval to Bayer Healthcare Pharmaceuticals inhibitor Aliqopa (copanlisib) for the treatment of adults with relapsed follicular lymphoma.
Some children will be able to be discharged from the hospital with home nursing support for their families. And although less than 10 percent survive to their first birthdays, some children with Trisomy 18 can enjoy many years of life with their families, reaching milestones and being involved with their community. A small number of adults (usually girls) with Trisomy 18 have and are living into their twenties and thirties, although with significant developmental delays that do not allow them to live independantly without assisted caregiving ...
Consult all reviews for Support Organisation For Trisomy - Not Available, (Clontarf, Leinster). Information on Support Organisation For Trisomy as contacts, web site, email, phone, ((01) 8339463), opening hours, address (Belgrove Road) and images
One mom reaches out to offer information and encouragement to all other parents facing life with Trisomy, and specifically, Trisomy 13.
China Malt Extract, Find details about China Malt Extract, Malt Extract Powder from Malt Extract - Xi′an Tianrui Biotech Co., Ltd.
More information on Distal Trisomy 10q Unique: Duplications of 10q (This is a great summary by Unique.) Unique Website (Read The Little Yellow Book.
Developed by renowned radiologists in each specialty, STATdx provides comprehensive decision support you can rely on - Trisomy 18
Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21. However, whether the sequencing approach is as accurate for the noninvasive prenatal diagnosis of trisomy 13 and 18 is unclear due to the lack of data from a large sample set. We studied 392 pregnancies, among which 25 involved a trisomy 13 fetus and 37 involved a trisomy 18 fetus, by massively parallel sequencing. By using our previously reported standard z-score approach, we demonstrated that this approach could identify 36.0% and 73.0% of trisomy 13 and 18 at specificities of 92.4% and 97.2%, respectively. We aimed to improve the detection of trisomy 13 and 18 by using a non-repeat-masked reference human genome instead of a repeat-masked one to increase the number of aligned sequence reads for each sample. We then applied a bioinformatics approach to correct GC content bias in the sequencing data. With these measures, we ...
Follicular lymphoma is the most common form of low-grade NHL and the second most common type of lymphoma overall diagnosed in the United States. Most follicular lymphoma diagnoses occur in adults over the age of 60, with equal rates of occurrence in male and female individuals; this specific lymphoma is rare in young people.. Follicular lymphoma affects B-cell lymphocytes and is indolent, which means it grows very slowly. Like most lymphomas, follicular lymphoma usually begins in the lymph nodes. The cells can spread into the blood and bone marrow. Other internal organs, including the liver and spleen, may also be affected.. Because follicular lymphoma grows so slowly, doctors may not treat it right away and instead adopt a "watchful waiting" approach. Over time, some follicular lymphomas transform into an aggressive (fast-growing) diffuse B-cell type of lymphoma, so its important for people with follicular lymphoma to be monitored closely. Learn more about the several treatment options that ...
For prenatal diagnostic testing, a chromosome analysis and a Fluorescent insitu Hybridisation or FISH test is performed.. FISH test: FISH provides a rapid result for confirmation or to determine if a pregnancy is affected by chromosome conditions such as Down syndrome, Edwards syndrome or Patau syndrome. Unlike chromosome analysis, FISH only looks at a small number of chromosome changes and results are available within 24-48 hours.. Chromosome analysis: A FISH test will always be followed by confirmatory testing either by a chromosome microarray or a conventional karyotype. These additional tests provide results in 8-14 days and can offer more information than the FISH test.. For the investigation of recurrent pregnancy loss and infertility a conventional chromosome analysis is performed. Results are typically available within 18 days.. ...
Our daughter Lilly was born on July 4 -Independence Day - 2010 and had Trisomy 18 (Edwards Syndrome), a chromosomal disorder. Only 5-10% of children born with Trisomy 18 live to see their 1st birthday. We were blessed to see Lilly celebrate her 1st birthday and then live another 5 months. The purpose of this blog was initially to share Lillys current condition with our family, friends, and the many others that were praying for Lilly. Lilly left this earth to be with Jesus the evening of December 15, 2011. We will always love and miss Lilly! I have continued this blog to write about us, as we learn to pick up the pieces, work through grief, and continue to live and share about Lilly ...
Our daughter Lilly was born on July 4 -Independence Day - 2010 and had Trisomy 18 (Edwards Syndrome), a chromosomal disorder. Only 5-10% of children born with Trisomy 18 live to see their 1st birthday. We were blessed to see Lilly celebrate her 1st birthday and then live another 5 months. The purpose of this blog was initially to share Lillys current condition with our family, friends, and the many others that were praying for Lilly. Lilly left this earth to be with Jesus the evening of December 15, 2011. We will always love and miss Lilly! I have continued this blog to write about us, as we learn to pick up the pieces, work through grief, and continue to live and share about Lilly ...
LGFL - Low-Grade Follicular Lymphoma. Looking for abbreviations of LGFL? It is Low-Grade Follicular Lymphoma. Low-Grade Follicular Lymphoma listed as LGFL
Follicular lymphoma is a cancer of the B-cells that accounts for around one third of all cases of lymphoma. The cancer is a form of non-Hodgkin lymphoma that usually affects adults, with an average age-at-diagnosis of 60. Follicular lymphoma is more common among women than among men.
We have demonstrated that DANSR enables efficient and selective evaluation of cfDNA from maternal blood for fetal aneuploidy. We analyzed 298 plasma samples from pregnant women, including 39 T21 and seven T18 cases. Previous studies with MPSS have used a Z statistic cut-off of three standard deviations to classify cases as aneuploid or euploid.[7, 9] Using a similar statistical analysis, we correctly distinguished all aneuploid cases from average-risk cases using as few as 420 000 reads per sample.. Digital analysis of selected regions has several advantages compared with MPSS as an assay for aneuploidy. First, the fraction of raw sequencing reads that map to expected loci exceeds 96% with DANSR; by contrast, studies using MPSS report mapping rates of 20% to 50%.[7, 8] Second, DANSR produces sequence data only from chromosomes of clinical interest; by contrast, MPSS produces data from all chromosomes, irrespective of their relevance to analysis of aneuploidy. Taken together, the DANSR advantages ...
The follicular lymphoma BAC libraries and data is a publicly funded data resource. You are free to use the data supplied by or through this web site in your scientific analysis. If you publish or use this data, you are required to attribute the original source of the data as belonging to the High Resolution Analysis of Follicular Lymphoma Genomes Project.. Please see our Open Access Data Release Policy page for more information.. ...
This FLIPI calculator for follicular lymphoma stratifies survival rate in patients diagnosed with follicular lymphoma and certain adverse outcome factors.
Roche has won European approval for cancer drug Gazyvaro as a treatment for some patients with previously treated follicular lymphoma, the most common type of indolent non-Hodgkins lymphoma. - News - PharmaTimes
Follicular lymphoma core concepts. Gene expression lifestyle wellness nutrition diet supplements remission natural regression tumor suppressor genes
FOLLICULAR LYMPHOMA description, symptoms and related genes. Get the complete information in our medical search engine for phenotype-genotype relation
Gazyva plus Revlimid seems to be a promising treatment for relapsed or refractory follicular lymphoma, according to the results of a clinical trial.
Causes of Trisomy 21 mosaicism including triggers, hidden medical causes of Trisomy 21 mosaicism, risk factors, and what causes Trisomy 21 mosaicism.
after the update to osx mountain lion my mbr was out of sync and i couldnt boot my gentoo (amd64) anymore (or windows for that matter). thought i share my experiences here how to get the dual/triple boot back (i.e. the mbr back in sync ...
When a fusion sequence combines upper-case and lower-case nucleotides, this indicates the approximate location of the boundary between both partner genes ...
When a fusion sequence combines upper-case and lower-case nucleotides, this indicates the approximate location of the boundary between both partner genes ...
Welcome! Inspired by the birth of my beautiful daughter Tessa Jo who was blessed with an extra 21st chromosome, TRISOMY TWENTY-ONEderful was created in 2012. I have graduated from a make-shift webpage/blog where it all started. I was moved by Tessa [or Buggy, Bug, Silly Head, etc.--all of which are nicknames you will often hear me call her by] to share…
Trisomy 6 information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
A cache-conscious version of the R-tree, called the CR-tree, is disclosed. To pack more entries in a node, the CR-tree compresses MBR keys, which occupy substantial part of the index data. It first represents the coordinates of an MBR key relatively to the lower left corner of its parent MBR to eliminate the leading 0s from the relative coordinate representation. Then, it quantizes the relative coordinates with a fixed number of bits to further cut off the trailing less significant bits. Consequently, the CR-tree becomes significantly wider and smaller than the ordinary R-tree. The experimental and analytical results show that the two-dimensional CR-tree performs search faster than the ordinary R-tree while maintaining similar update performance and consuming less memory space.
IMPA2兔多克隆抗体(ab96503)可与人样本反应并经WB实验严格验证。中国75%以上现货,所有产品均提供质保服务,可通过电话、电邮或微信获得本地专属技术支持。
Great progress has been made on the screening of trisomy 21 (T21), an area closely regulated in France since 1997, with a coverage and screening rate of about 80 ...
Least one species has potential biological immortality: Turritopsis dohrnii. Is means that collagen has several. ? Immortality is eternal life, the ability to live forever. Er one million cases are diagnosed each year, with more young people having skin cancer. Rtain scientists. Collagen is resorbable (can be broken down and assimilated by the body), is functionally diverse and is naturally occurring. Penile Enlargement Cream Dick Enhancement Product Warnings with Cures For Edwards Syndrome and Fda Approved Cock Enhancement Supplements is the most frequent. Skin cancer is the most commonly diagnosed cancer among men and women. Penile Enlargement Cream Dick Enhancement Product Warnings with Cures For Edwards Syndrome and Fda Approved Cock Enhancement Supplements is the most frequent. Tive voluntary euthanasia is legal in Belgium, Luxembourg and the Netherlands. Tive voluntary euthanasia is legal in Belgium, Luxembourg and the Netherlands. organizing a cause and effect essay Immortality is eternal ...
The risk of having a baby with a chromosomal abnormality such as a trisomy increases with maternal age.. Trisomy 21 (Down syndrome) is due to an extra chromosome 21 and is the most common trisomy at the time of birth. It is associated with mild to severe intellectual disabilities and may also lead to digestive disease and congenital heart defects. It is estimated that trisomy 21 is present in 1 out of every 700 newborns. (1). Trisomy 18 (Edwards syndrome) is due to an extra chromosome 18 and is associated with a high rate of miscarriage. Infants born with trisomy 18 often have congenital heart defects as well as various other medical conditions that shortening their lifespan. It is estimated that trisomy 18 is present in approximately 1 out of every 5,000 newborns. (2). Trisomy 13 (Patau syndrome) is due to an extra chromosome 13 and is associated with a high rate of miscarriage. Infants born with trisomy 13 usually have severe congenital heart defects and other medical conditions. Survival ...
The overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13), Klinefelter syndrome, (47, XXY), and other chromosome abnormalities. Accomplishing that task would reduce the need for invasive amniocentesis and CVS procedures ...
The overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13), Klinefelter syndrome, (47, XXY), and other chromosome abnormalities. Accomplishing that task would reduce the need for invasive amniocentesis and CVS procedures ...
NIPT involves taking a sample of blood from the pregnant woman. This can be done from 10 weeks of pregnancy onwards. The blood sample is evaluated for the babys DNA to determine a level of risk for Down syndrome (trisomy 21), Edward syndrome (trisomy 18) and Patau syndrome (trisomy 13).. It is important to understand that NIPT is a screening and not a diagnostic test. If the result comes back indicating a low risk for trisomies 21, 18 and 13, it is very unlikely (less than or equal to 0.1% chance) that your baby has one of these disorders. If the result comes back indicating a high risk of trisomy, invasive testing with amniocentesis or chorionic villus sampling may be offered. Furthermore, this test does not provide information about structural abnormalities. However, the benefit of the test is that it is non-invasive and not associated with an increased risk of pregnancy loss.. NIPT is offered to high-risk women including those aged 35 years and over, those with an abnormal ultrasound, a ...
NIPT involves taking a sample of blood from the pregnant woman. This can be done from 10 weeks of pregnancy onwards. The blood sample is evaluated for the babys DNA to determine a level of risk for Down syndrome (trisomy 21), Edward syndrome (trisomy 18) and Patau syndrome (trisomy 13).. It is important to understand that NIPT is a screening and not a diagnostic test. If the result comes back indicating a low risk for trisomies 21, 18 and 13, it is very unlikely (less than or equal to 0.1% chance) that your baby has one of these disorders. If the result comes back indicating a high risk of trisomy, invasive testing with amniocentesis or chorionic villus sampling may be offered. Furthermore, this test does not provide information about structural abnormalities. However, the benefit of the test is that it is non-invasive and not associated with an increased risk of pregnancy loss.. NIPT is offered to high-risk women including those aged 35 years and over, those with an abnormal ultrasound, a ...
Although most babies are born in great condition, worrying that your baby may have a problem is common in pregnancy. A variety of tests are available to help detect some of these problems. This worksheet will help you decide if you want any testing done, and if so, what type is right for you. Please review this information and answer the questions at the end BEFORE your first visit with the nurse, and bring it with you so we can help make a plan for your pregnancy.. Prenatal tests are used to screen for problems such as chromosome abnormalities (for example Down or Edwards Syndrome), or open neural tube defects (for example spina bifida or anencephaly). Test types fall into two categories: screening tests and diagnostic tests. They can be performed in the first trimester at 10-13 weeks, the second trimester at 15-20 weeks, or in both trimesters. Different types of testing are recommended based on each mothers individual risk.. Screening tests do not tell you if your baby has a problem, they ...
Follicular lymphoma (FL) is an indolent tumor of the lymphatic system, which may often remain inactive for years before undergoing transformation into an aggressive tumor.
Mayo, R. Nair, R. Gheith, S. (2016, Sept). An Unusual Case of IgG4 Associated Marginal Zone B-cell Lymphoma Presenting as Subcutaneous Nodules Mimicking Lipomas. Poster Presented at: POSH, Harrisburg, Pa.. ...
RESULTS. Fluorescence in-situ hybridisation detected 558 (9.5%) patients with chromosomal abnormalities. Abnormal ultrasounds (70%) and maternal serum screens (21%) were the most indicative of chromosomal abnormalities. When comparing fluorescence in-situ hybridisation data with karyotype results for the five chromosomes of interest, the sensitivity and specificity were 99.3% and 99.9%, respectively. When comparing fluorescence in-situ hybridisation data with karyotype results for all chromosomes, the sensitivity decreased to 86.8%, whereas the specificity remained at 99.9%. Of 643 cases with karyotype abnormalities, 85 were fluorescence in-situ hybridisation-negative (false negative rate, 13.2%), which included structural rearrangements, chromosome mosaicism, and other trisomies. Despite abnormal ultrasound indications, fluorescence in-situ hybridisation missed 32 cases which included structural rearrangements, mosaicisms, and other trisomies ...
As this karyotype displays, a diploid human cell contains 22 pairs of homologous chromosomes and 2 sex chromosomes.. Section ... chromosomes." For example, the number of homologous sets of chromosomes in humans is 23 if one considers a "set" to be one pair ... Number of homologous pairs[edit]. The introduction states: a typical human somatic cell contains [...] 23 homologous chromosome ... What about the X chromosome and Y chromosome in male humans? By the definition they do not belong to any homologous set, since ...
Humans carry pairs of chromosomes, so each individual possesses two copies of the gephyrin gene. Dark blue and red horizontal ... David-Watine B (2001). "The human gephyrin (GPHN) gene: structure, chromosome localization and expression in non-neuronal cells ... Gephyrin is a protein that in humans is encoded by the GPHN gene.[5][6][7][8][9] ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ...
In humans, miR-122 is encoded at a single genomic locus in chromosome 18. The primary miR-122 transcript (pri-miR-122) is a ... The miR-122 hairpin precursor consensus shown here is predicted based on base pairing and cross-species conservation. The ... This molecule reduced HCV viremia in a small-scale trial in chimpanzees and was found to be safe in a small trial in humans. ... Lin CJ, Gong HY, Tseng HC, Wang WL, Wu JL (2008). "miR-122 targets an anti-apoptotic gene, Bcl-w, in human hepatocellular ...
Humans have 23 pairs of chromosomes and other great apes have 24 pairs of chromosomes. In the human evolutionary lineage, two ... Human and chimpanzee chromosomes are very similar. The primary difference is that humans have one fewer pair of chromosomes ... Human evolutionary genetics Human chromosome 2 Human Genome Project McConkey EH (2004). "Orthologous numbering of great ape and ... producing human chromosome 2. There are nine other major chromosomal differences between chimpanzees and humans: chromosome ...
DARC protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) Duffy at BGMUT Blood Group Antigen ... The gene was first localised to chromosome 1 in 1968, and was the first blood system antigen to be localised. It is a single ... The mouse gene has two exons (100 and 1064 nucleotides in length respectively), separated by a 461 base pair intron. In the ... The ancestral form of extant DARC alleles in humans appears to be the FY*B allele. The gene appears to be under strong ...
The human ROCK1 gene is located on human chromosome 18 with specific location of 18q11.1. The location of the base pair starts ... In humans, the main function of ROCK1 is actomyosin contractility. As mentioned before, this contributes to many proximal ... "Q13464 (ROCK1_HUMAN)". "Inhibition of Rho-dependent kinases ROCK I/II activates VEGF-driven retinal neovascularization and ... Therefore, increased expression of RhoA and its downstream effector ROCK1 is often observed in human cancers. These cancers are ...
Cox MP, Mirazón Lahr M (2006). "Y-chromosome diversity is inversely associated with language affiliation in paired Austronesian ... Haplogroup S1a is a human Y-DNA haplogroup, defined by SNPs Z41335, Z41336, Z41337, Z41338, Z41339, Z41340, and Z41341. S1a is ... European Journal of Human Genetics. 23. doi:10.1038/ejhg.2014.106. Kayser M, Choi Y, Van Oven M, Mona S, Brauer S, Trent RJ, ... "Improved phylogenetic resolution and rapid diversification of Y-chromosome haplogroup K-M526 in Southeast Asia". Eur J Hum ...
... genealogy Haplogroup Haplotype Human Y-chromosome DNA haplogroup Molecular phylogenetics Paragroup Subclade Y-chromosome ... "Y-chromosome diversity is inversely associated with language affiliation in paired Austronesian- and Papuan-speaking ... "Reduced Y-Chromosome, but Not Mitochondrial DNA, Diversity in Human Populations from West New Guinea". The American Journal of ... Haplogroup S-M230, also known as S1a1b (and previously as S* or K2b1a4), is a Y-chromosome DNA haplogroup. It is by far the ...
Y-chromosome haplotypes and implications for human history in the Pacific". Human Mutation. 17 (4): 271-80. doi:10.1002/humu.23 ... Cox, Murray P.; Mirazón Lahr, Marta (2006). "Y-chromosome diversity is inversely associated with language affiliation in paired ... by human Y-chromosome DNA haplogroups based on relevant studies. Oceania Languages of Oceania Demographics of Oceania List of ... "Reduced Y-Chromosome, but Not Mitochondrial DNA, Diversity in Human Populations from West New Guinea". The American Journal of ...
Cox, Murray P.; Mirazón Lahr, Marta (2006). "Y-chromosome diversity is inversely associated with language affiliation in paired ... genetic genealogy Haplogroup Haplotype Human Y-chromosome DNA haplogroup molecular phylogeny Paragroup Subclade Y-chromosome ... "Reduced Y-Chromosome, but Not Mitochondrial DNA, Diversity in Human Populations from West New Guinea". The American Journal of ... Haplogroup M, also known as M-P256 and Haplogroup K2b1b (previously K2b1d) is a Y-chromosome DNA haplogroup. M-P256 is a ...
The NDUFA6 gene is located on the q arm of chromosome 22 in position 13.2 and spans 5,359 base pairs. The gene produces an 18 ... Related pseudogenes have also been identified on four other chromosomes. The human NDUFA6 gene codes for a subunit of Complex I ... 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. doi:10.1038/990031. PMID 10591208. Hattori M, ... 2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311-9. doi:10.1038/35012518. PMID 10830953. Strausberg RL ...
Chromosome abnormalities are detected in 1 of 160 live human births. Apart from sex chromosome disorders, most cases of ... The human nucleotide diversity is estimated to be 0.1% to 0.4% of base pairs. A difference of 1 in 1,000 amounts to ... According to a 2000 study of Y-chromosome sequence variation, human Y-chromosomes trace ancestry to Africa, and the descendants ... No two humans are genetically identical. On average, in DNA sequence, each human is 99.5% similar to any other human. Even ...
The KIAA1841 gene spans 52809 base pairs and is orientated on the ++ strand. The coding region is made up of 4292 base pairs ... KIAA1841 is expressed at low levels in a wide range of tissues throughout the human body. In humans, the KIAA1841 gene produces ... Genes PEX13 and C2orf74 neighbor KIAA1841 on chromosome 2. KIAA1841 is highly expressed in reproductive structures and nervous ... "Genecards". The Gene Human Database. "Aceview". NCBI. "Genecards". The Gene Human Database. "BLAST". NCBI. Hedges, SB. " ...
HAR1 is an 106-base pair stretch found on the long arm of chromosome 20 overlapping with part of the RNA genes HAR1F and HAR1R ... Human accelerated regions (HARs), first described in August 2006, are a set of 49 segments of the human genome that are ... "Comment on "Human-Specific Gain of Function in a Developmental Enhancer"". Science. February 6, 2009. What Makes Us Human?, ... They are named according to their degree of difference between humans and chimpanzees (HAR1 showing the largest degree of human ...
Paired box gene 4, also known as PAX4, is a protein which in humans is encoded by the PAX4 gene. This gene is a member of the ... Tamura T, Izumikawa Y, Kishino T, Soejima H, Jinno Y, Niikawa N (1994). "Assignment of the human PAX4 gene to chromosome band ... Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes ...
In humans, the SMAD4 gene contains 54 829 base pairs and is located from pair n° 51,030,212 to pair 51,085,041 in the region ... In mammals, SMAD4 is coded by a gene located on chromosome 18. ... Somatic mutations found in human cancers of the MH1 domain of ... Zawel L, Dai JL, Buckhaults P, Zhou S, Kinzler KW, Vogelstein B, Kern SE (Mar 1998). "Human Smad3 and Smad4 are sequence- ... Martin MM, Buckenberger JA, Jiang J, Malana GE, Knoell DL, Feldman DS, Elton TS (Sep 2007). "TGF-beta1 stimulates human AT1 ...
The chromosomes in this snail are small, and the haploid number of chromosomes is 18. A complete genome sequence from the ... 1997). The genome length is estimated as about 929,10 Mb (millions of base pairs; 0.95 ± 0.01 pg), which is a small genome size ... Sequencing of the whole genome was approved as a priority by National Human Genome Research Institute in August 2004, Its ... Crompton, D. W. (1999). "How much human helminthiasis is there in the world?" (PDF). The Journal of Parasitology. 85 (3): 397- ...
... in the SLC39A9 gene can occur due to genetic deletion of the q24.1-24.3 band of base pairs within the human chromosome 14. This ... ZIP9 influxes zinc ions into the cytosol and its gene is expressed almost in every tissue of human body. The sub-cellular ... Role of human ZIP9 in testosterone-induced prostate and breast cancer cell apoptosis". Endocrinology. 155 (11): 4250-65. doi: ... A study in 2014, elucidated the intermediary role of ZIP9 in causing human breast and prostate cancer, as it induced the ...
... a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the ... "Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers". Proceedings of the National ... Stromal antigen 3 is a protein that in humans is encoded by the STAG3 gene. STAG3 protein is a component of a cohesin complex ... STAG3 appears to participate in sister-chromatid cohesion throughout the meiotic process in human oocytes. A homozygous 1-bp ...
The human Y chromosome is composed of about 59 million base pairs and is passed virtually unchanged from father to son. The ... Up to eighteen percent(18%) of children have a different father than what is believed and is called misattributed paternity. ... repair Electrophoresis Genetic disorder Heritability Human chromosomes Human genetic variation Human genetic clustering Human ... "First Human Embryos Edited in U.S." author Steve Connor. July 26, 2017 Gene editing used to correct sickle cell disease, human ...
... is one of the 23 pairs of chromosomes in humans. Chromosome 20 spans around 63 million base pairs (the building ... See also: Category:Genes on human chromosome 20.. The following is a partial list of genes on human chromosome 20. For complete ... "Chromosome 20". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 20". Human Genome Project Information Archive ... Human chromosome 20 pair after G-banding.. One is from mother, one is from father. ...
The haploid human genome (23 chromosomes) is estimated to be about 3.2 billion bases long and to contain 20,000-25,000 distinct ... The GU pairing, with two hydrogen bonds, does occur fairly often in RNA (see wobble base pair). Paired DNA and RNA molecules ... kb (= kbp) = kilo base pairs = 1,000 bp Mb (= Mbp) = mega base pairs = 1,000,000 bp Gb = giga base pairs = 1,000,000,000 bp. ... In the Human genome, the centimorgan is about 1 million base pairs. List of Y-DNA single-nucleotide polymorphisms Non-canonical ...
"Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector" ... BACs can also be utilized to detect genes or large sequences of interest and then used to map them onto the human chromosome ... "Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the ... Yeast artificial chromosome. References[edit]. *^ O'Connor M, Peifer M, Bender W (2018). "Construction of large DNA segments in ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... See also: Category:Genes on human chromosome 17.. The following is a partial list of genes on human chromosome 17. For complete ... "Chromosome 17". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 17". Human Genome Project Information Archive ... Human chromosome 17 pair after G-banding.. One is from mother, one is from father. ...
1997). "Mutation of human keratin 18 in association with cryptogenic cirrhosis". J. Clin. Invest. 99 (1): 19-23. doi:10.1172/ ... chromosomal location emphasizes difference from other keratin pairs". New Biol. 2 (5): 464-78. PMID 1705144. Romano V, Hatzfeld ... Waseem A, Gough AC, Spurr NK, Lane EB (1990). "Localization of the gene for human simple epithelial keratin 18 to chromosome 12 ... Detection of mRNAs encoding human cytokeratins nos. 8 and 18 in normal and tumor cells by hybridization with cDNA sequences in ...
The human RUFY2 gene is located on the long (q) arm of chromosome 10 at region 21 band 3, from base pair 70,100,864 to base ... RUN and FYVE domain containing 2 (RUFY2) is a protein that in humans is encoded by the RUFY2 gene. The RUFY2 gene is named for ... 8,180 base pairs upstream of RUFY2 is the protein-coding gene for phenazine biosynthesis-like protein domain containing (PBLD ... pair 70,167,051 on the reverse strand (Build GRCh37/hg19) (map). The gene produces a 2,080 base pair mRNA. There are 18 ...
This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 gene.[5][6][7] ... Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet. 112 (3): 256-65. doi:10.1002/ajmg.10776. ...
Murray P. Cox and Marta Mirazón Lahr, "Y-Chromosome Diversity Is Inversely Associated With Language Affiliation in Paired ... Reduced Y-Chromosome, but Not Mitochondrial DNA, Diversity in Human Populations from West New Guinea Am J Hum Genet 72:281-302 ... Y-chromosome haplogroup M is the most common, with Y-chromosome haplogroup O2a as a small minority in second place and Y- ... Human habitation is estimated to have begun between 42,000 and 48,000 years ago. The Netherlands claimed the region and ...
2010 Non-homologous sex chromosomes of birds and snakes share repetitive sequences. Chromosome Res. 18, 787-800. (doi:10.1007/ ... 1990 A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346 ... Among 34 non-avian reptiles, a convergently evolved pair of amino acids encoded by sequence within exon 2 near the DM-binding ... Staurotypus triporcatus, a turtle with XY sex chromosomes homologous to chicken ZW sex chromosomes [29], exhibits an S54-S57 ...
The pattern of chromosome-specific variations in telomere length in humans shows signs of heritability and is maintained ... Mapping genetic loci that determine leukocyte telomere length in a large sample of unselected female sibling pairs. Am J Hum ... The pattern of chromosome-specific variations in telomere length in humans is determined by inherited, telomere-near factors ... Heterogeneity in telomere length of human chromosomes. Hum Mol Genet 1996; 5: 685-91. ...
Full-length coding sequences of two novel human cadherin cDNAs were obtained by sequence analysis of several EST clones and 5 ... Chromosome Mapping. Chromosomes, Human, Pair 18*. DNA Primers. Exons. Expressed Sequence Tags. Humans. Introns. Male. Mice. ... 0/CDH19 protein, human; 0/CDH20 protein, human; 0/CDH7 protein, human; 0/Cadherins; 0/Cdh20 protein, mouse; 0/DNA Primers ... These novel human genes, CDH7, CDH19, and CDH20, are localized on chromosome 18q22-q23, distal of both the gene CDH2 (18q11) ...
A boy with r(18)(p11.3; q23) lacked serum IgA and had arthritis affecting both knees. A girl with del (18)(q21.2; q22) had ... We describe 2 children with a partial deletion of chromosome 18 and chronic arthritis. ... Chromosome Aberrations*. Chromosome Deletion*. Chromosomes, Human, Pair 18*. Chronic Disease. Dysgammaglobulinemia / genetics. ... We describe 2 children with a partial deletion of chromosome 18 and chronic arthritis. A boy with r(18)(p11.3; q23) lacked ...
As this karyotype displays, a diploid human cell contains 22 pairs of homologous chromosomes and 2 sex chromosomes.. Section ... chromosomes." For example, the number of homologous sets of chromosomes in humans is 23 if one considers a "set" to be one pair ... Number of homologous pairs[edit]. The introduction states: a typical human somatic cell contains [...] 23 homologous chromosome ... What about the X chromosome and Y chromosome in male humans? By the definition they do not belong to any homologous set, since ...
Chromosomes, Human, Pair 13 - genetics Chromosomes, Human, Pair 9 - genetics Genes, Recessive Genetic Linkage Humans Phenotype ... Chromosomes, Human, Pair 11 - genetics Chromosomes, Human, Pair 9 - genetics Female Finland Genetic markers Genetic ... Chromosomes, Human, Pair 9 - genetics Cohort Studies DNA Mutational Analysis De Lange Syndrome - genetics Female Humans Male ... Chromosome Mapping Chromosomes, Human, Pair 9 - genetics Comorbidity Genetic Linkage Genetic markers Genetic Predisposition to ...
Categories: Chromosomes, Human, Pair 18 Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...
Two X chromosomes produce a female, and one X and one Y chromosome produce a male. When a baby is conceived, it receives one X ... chromosome from the mother and either an X or a Y chromosome from the father. ... Gender or sex is determined in humans genetically by one pair of chromosomes out of a total of 23 pairs. ... The human organism contains threadlike, gene-bearing chromosomes, twenty three pairs of them. These chromosomes contain the ...
"Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector" ... BACs can also be utilized to detect genes or large sequences of interest and then used to map them onto the human chromosome ... "Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the ... Yeast artificial chromosome. References[edit]. *^ OConnor M, Peifer M, Bender W (2018). "Construction of large DNA segments in ...
European Journal of Human Genetics 22 , 480-485 Rights & permissionsfor article A 3-base pair deletion, c.9711_9713del, in ,i, ... Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing *Wei Chen ... Rights & permissionsfor article Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end ... A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy *Arjan PM de ...
Every chromosome pair had a least one rearrangement. No normal X chromosomes were observed and Y chromosomes were absent by QM ... This is a hyper-triploid human cell line with a modal chromosome number of 75. Homogeneously staining regions and dicentric ... No normal X chromosomes were observed and Y chromosomes were absent by QM staining. Normal copies of chromosomes 2,6,11,13,16 ... a chromosome break in 3/30, a chromatid break in 5/30, a ring chromosome in 1/30, and double minutes in 11/30 (1-5 copies). ...
G-banding ideogram of human chromosome 1 in resolution 850 bphs. Band length in this diagram is proportional to base-pair ... Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all ... See also: Category:Genes on human chromosome 1.. The following is a partial list of genes on human chromosome 1. For complete ... Wikimedia Commons has media related to Human chromosome 1.. *. National Institutes of Health. "Chromosome 1". Genetics Home ...
DNA sequence and analysis of human chromosome 18. (PMID: 16177791) Nusbaum C … Lander ES (Nature 2005) 3 4 54 ... Browse Matched Antibody Pairs. *Browse Proteins and Peptides. *Search Knockout (KO) Validated Antibodies ... May act as suppressor of replication stress and chromosome missegregation.. *Q5U5Q3-MEX3C_HUMAN ... Creative Biolabs Recombinant Anti-Human MEX3C Antibody Fab Fragment and Recombinant Anti-Human MEX3C Antibody ...
A normal human cell contains 23 pairs of chromosomes. Patau Syndrome. Patau syndrome is a result of an extra chromosome in the ... each cell in the human body carries 23 pairs of chromosomes. At conception, when cells begin to divide, an extra chromosome may ... Trisomies can happen on any one of the human bodys 23 chromosomes, and are usually named by number according to the chromosome ... attach to a pair of chromosomes. This creates cells with 47 chromosomes rather than 46. The extra chromosome is usually ...
Human apolipoprotein B transgenic mice generated with 207- and 145- kilobase pair bacterial artificial chromosomes. Evidence ... kb-alphoid DNA into a human BAC clones via the λ Red recombineering system in an attempt to build human artificial chromosomes ... Construction of human artificial chromosome vectors by recombineering. Gene. 2005;351:29-38. [PubMed] ... Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector. ...
Humans normally have 23 pairs of chromosomes. Chromosomes are numbered 1-22, and the 23rd pair is composed of the sex ... the human body and consisting of a complex of proteins and DNA. Humans have 46 chromosomes arranged into 23 pairs. Chromosomes ... Karyotyping -A laboratory test used to study an individuals chromosome make-up. Chromosomes are separated from cells, stained ... Using special stains and microscopy, individual chromosomes are identified, and the presence of an extra chromosome 18 is ...
Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 18". Genet Test. 1 (1): 69-71. ... The following is a partial list of genes on human chromosome 18. For complete list, see the link in the infobox on the right. ... The following are some of the gene count estimates of human chromosome 18. Because researchers use different approaches to ... People normally have two copies of this chromosome. Chromosome 18 spans about 80 million base pairs (the building material of ...
Arnold on klinefelters syndrome in children: Presence of more than one x chromosome with one y chromosome is klinefelter ... Chromosome analysis: A basic chromosome test on blood is the most definitive study. Humans have 23 pairs of chromosomes, one ... Error in formation: Humans have 23 pairs of chromosomes. During the formation of the egg, each pair splits and one of each ... It is a genetic disorder in which there is at least one extra x chromosome to a normal human male karyotype, for a total of 47 ...
Chromosomes, Human, Pair 17. 1. 1991. 18. 0.140. Why? Coat Protein Complex I. 1 ...
Chromosomes, Human, Pair 18 Physical and Genetic Mapping of a Human Apical Epithelial Na+/H+ Exchanger (NHE3) Isoform to ... Jabs, E. W., Thomas, P. J., Bernstein, M. T., Coss, C., Ferreira, G. C. & Pedersen, P. L., May 1994, In : Human Genetics. 93, 5 ... Chromosome 5p15.3. Brant, S. R., Bernstein, M. T., Wasmuth, J. J., Taylor, E. W., McPherson, J. D., Li, X., Walker, S., ...
Each cell in the human body has 23 pairs of chromosomes, strands of DNA. Trisomy means that there are three copies, not two, of ... Three copies of the 21st chromosome is Trisomy-21, also called Downs Syndrome. Three copies of the 18th chromosome give you ... And an important reminder of something so simple it often eludes us: how to be human.. When I was a kid, I would pass homeless ... But I know whats in my mind: a recognition that Im human and that the person Im interacting with is, too.. And it all just ...
Chromosome abnormalities are detected in 1 of 160 live human births. Apart from sex chromosome disorders, most cases of ... The human nucleotide diversity is estimated to be 0.1% to 0.4% of base pairs. A difference of 1 in 1,000 amounts to ... According to a 2000 study of Y-chromosome sequence variation, human Y-chromosomes trace ancestry to Africa, and the descendants ... No two humans are genetically identical. On average, in DNA sequence, each human is 99.5% similar to any other human. Even ...
Does Barcoding DNA Reveal a Single Human Ancestral Pair?. I dont think the study can claim all the things it does based on the ... in which they claim that there never was an original pair of humans like Adam and Eve. ... On Prejudiced Models and Human Origins. Recently Dennis Venema joined with Scot McKnight to publish a book, Adam and the Genome ... Mitochondrial Eve and Y-Chromosome Adam, and Adam and the Genome. Both evolutionists and Darwin-skeptics believe that all ...
1.Humans have 23 pairs of chromosomes while chimpanzees have 24. Evolutionary scientists believe that one of the human ... If humans can find a way to use others to their advantage , they do. Religion is just one of the many ways in which humans ... Chimpanzees and other apes have about 23 kilobases (a kilobase is 1,000 base pairs of DNA) of repeats. Humans are unique among ... The other animals or the humans? Certainly, most humans(myself included) clearly do. As for the others... we make the taxonomy ...
They are organized in pairs. Humans have 23 pairs of chromosomes. In a trisomy syndrome, an extra chromosome is present so that ... There are 46 chromosomes in each human somatic cell organized in 23 pairs, of which 22 pairs are similar in appearance but ... The state of an individual or cell with an extra chromosome instead of the normal pair of homologous chromosomes; in humans, ... The state of an individual or cell with an extra chromosome instead of the normal pair of homologous chromosomes; in humans, ...
  • Telomeres are nucleoprotein complexes at the ends of chromosomes and consist of tandem arrays of short repetitive sequences (TTAGGG in humans) and a set of specialized proteins ( 1-3 ). (aacrjournals.org)
  • The PCR-based, comparative genomic hybridization also allows every chromosome to be assessed, whereas other methods can assess only a few. (genomenewsnetwork.org)
  • Results Through homozygosity mapping, we genetically linked the USH phenotype segregating in family PKDF1051 to markers on chromosome 1p36.32-p36.22. (bmj.com)
  • Using the sequence tagged site-amplification mapping approach, we defined the core-amplified domain by screening 75 normal-tumor paired esophageal samples. (aacrjournals.org)
  • STS-amplification mapping was applied to the DNA from 75 normal-tumor paired esophageal samples using STS markers in the chromosomal vicinity of the three cloned restriction fragments to define the frequency and extent of amplification. (aacrjournals.org)
  • 2001) Family‐based association mapping provides evidence for a gene for reading disability on chromosome 15q. (els.net)
  • As of 2017[update], the Single Nucleotide Polymorphism Database (dbSNP), which lists SNP and other variants, listed 324 million variants found in sequenced human genomes. (wikipedia.org)
  • A genomic analysis indicated that NPC1-MELK arose from a complex interchromosomal translocation event involving chromosomes 18, 3, and 9 with 3 rearrangement points, and this was consistent with chromoplexy. (elsevier.com)
  • These novel human genes, CDH7, CDH19, and CDH20, are localized on chromosome 18q22-q23, distal of both the gene CDH2 (18q11) encoding N-cadherin and the locus of the six desmosomal cadherin genes (18q12). (biomedsearch.com)
  • A 2-Mb YAC/BAC-based physical map of the ovum mutant (Om) locus region on mouse chromosome 11. (biomedsearch.com)
  • 10 ) were the first to map a susceptibility locus to chromosome 6p22 in affected sib pairs collected from southern China, supporting the involvement of the human leukocyte antigens in the pathogenesis of NPC. (aacrjournals.org)
  • Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus. (springer.com)
  • 1994) Quantitative trait locus for reading disability on chromosome 6. (els.net)
  • 1999) A quantitative‐trait locus on chromosome 6p influences different aspects of developmental dyslexia. (els.net)
  • 1999) Quantitative‐trait locus for specific language and reading deficits on chromosome 6p. (els.net)
  • 2001) Linkage studies suggest a possible locus for developmental dyslexia on chromosome 1p. (els.net)
  • The illustration below shows a photograph of the human chromosomes when viewed with a microscope (this is called a karyotype). (familytreedna.com)
  • G-banded karyotype analysis showed that their chromosome karyotypes were 45,X/46,X,i(X)(q10) and 45,X/47,XXX for B10 and B11 respectively, which were basically consistent with array-MLPA results (Figure 4). (nih.gov)
  • Evolutionary scientists believe that one of the human chromosomes has been formed through the fusion of two small chromosomes in the chimp instead of an intrinsic difference resulting from a separate creation. (sciforums.com)
  • A child can only inherit an X chromosome from its mother, but it can inherit either an X or a Y chromosome from its father. (brighthub.com)
  • Because females inherit an X chromosome from their fathers, female offspring of affected fathers are never affected. (prezi.com)
  • It is important that pregnant women are given full information on the possible health problems that might arise for babies affected by an additional chromosome. (cochrane.org)
  • Males, on the other hand, only have one X chromosome, and if contains the white trait, the eyes of the fly must be white. (brighthub.com)
  • Most males have one Y and one X chromosome. (healthtap.com)
  • Because males inherit a Y chromosome from their fathers, every son of an affected father will be affected. (prezi.com)
  • The present study addresses this lacuna by analyzing 190 Pathan males from Afghanistan using high-resolution Y-chromosome binary markers. (blogspot.com)
  • This is because males inherit their X chromosome and all X-linked genes will be inherited from the maternal side. (euvolution.com)
  • Since Y chromosomes can only be found in males, Y linked traits are only passed on from father to son. (euvolution.com)
  • A bacterial artificial chromosome ( BAC ) is a DNA construct , based on a functional fertility plasmid (or F-plasmid ), used for transforming and cloning in bacteria , usually E. coli . (wikipedia.org)
  • Gene expression from bacterial artificial chromosome (BAC) clones has been demonstrated to facilitate physiologically relevant levels compared to viral and nonviral cDNA vectors. (pubmedcentralcanada.ca)
  • Most of the newly identified loci resemble the sequences of mitochondrial tRNAs suggesting unexpected new links between the human nuclear and mitochondrial genomes, links that are not currently understood. (news-medical.net)
  • 1997) Susceptibility loci for distinct components of developmental dyslexia on chromosomes 6 and 15. (els.net)
  • Using chromosome substitution strains (CSS), we found that loci on chromosomes 8, 11, and 18 influence susceptibility to S. aureus sepsis in A/J mice. (elsevier.com)
  • Forty-two studies (65%) enrolled pregnant women with a high chance of having babies with abnormal chromosome number. (cochrane.org)
  • However, when a gNIPT detects an abnormal chromosome number, then a confirmation using invasive tests (like amniocentesis or CVS) is still needed before pregnancy-related decisions can be made. (cochrane.org)
  • In addition, in this review most studies enrolled pregnant women with increased chance of having babies with abnormal chromosome number, so our findings do not directly apply to general populations of pregnant women. (cochrane.org)
  • In contrast to segment polarity genes, pair-rule homologues tend to exhibit more divergent patterns. (biologists.org)
  • Here, we address this debate by investigating frequency patterns and diversity in the largest collection of R1b1b2-M269 chromosomes yet assembled. (royalsocietypublishing.org)
  • Embryos whose chromosomes all appear healthy have an increased potential of making a baby, says Stern, who contrasts this with the "horrendously chaotic chromosome patterns" seen in some embryos. (genomenewsnetwork.org)
  • We used epigenome-wide DNA methylation (IlluminaHumanMethylation450 BeadChip) in cord blood and mid-childhood peripheral blood to investigate pre- and post-natal methylation marks associated with mid-childhood (age 6.7-10.2) total serum IgE levels in 217 mother-child pairs in Project Viva-a prospective longitudinal pre-birth cohort in eastern Massachusetts, USA. (springer.com)
  • The establishment of the human methylome during fetal development coincides with early immune development relevant to IgE-mediated allergic sensitization and makes DNA methylation in cord blood a potential early molecular marker of IgE-mediated disease onset. (springer.com)