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.

A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. (1/1012)

Microdeletions of chromosome 22q11 are the most common genetic defects associated with cardiac and craniofacial anomalies in humans. A screen for mouse genes dependent on dHAND, a transcription factor implicated in neural crest development, identified Ufd1, which maps to human 22q11 and encodes a protein involved in degradation of ubiquitinated proteins. Mouse Ufd1 was specifically expressed in most tissues affected in patients with 22q11 deletion syndrome. The human UFD1L gene was deleted in all 182 patients studied with 22q11 deletion, and a smaller deletion of approximately 20 kilobases that removed exons 1 to 3 of UFD1L was found in one individual with features typical of 22q11 deletion syndrome. These data suggest that UFD1L haploinsufficiency contributes to the congenital heart and craniofacial defects seen in 22q11 deletion.  (+info)

Complete exon-intron organization of the mouse fibulin-1 gene and its comparison with the human fibulin-1 gene. (2/1012)

Fibulin-1 is a 90 kDa calcium-binding protein present in the extracellular matrix and in the blood. Two major variants, C and D, differ in their C-termini as well as the ability to bind the basement membrane protein nidogen. Here we characterized genomic clones encoding the mouse fibulin-1 gene, which contains 18 exons spanning at least 75 kb of DNA. The two variants are generated by alternative splicing of exons in the 3' end. By searching the database we identified most of the exons encoding the human fibulin-1 gene and showed that its exon-intron organization is similar to that of the mouse gene.  (+info)

Microdeletion 22q11 and oesophageal atresia. (3/1012)

Oesophageal atresia (OA) is a congenital defect associated with additional malformations in 30-70% of the cases. In particular, OA is a component of the VACTERL association. Since some major features of the VACTERL association, including conotruncal heart defect, radial aplasia, and anal atresia, have been found in patients with microdeletion 22q11.2 (del(22q11.2)), we have screened for del(22q11.2) by fluorescent in situ hybridisation (FISH) in 15 syndromic patients with OA. Del(22q11.2) was detected in one of them, presenting with OA, tetralogy of Fallot, anal atresia, neonatal hypocalcaemia, and subtle facial anomalies resembling those of velocardiofacial syndrome. The occurrence of del(22q11.2) in our series of patients with OA is low (1/15), but this chromosomal anomaly should be included among causative factors of malformation complexes with OA. In addition, clinical variability of del(22q11.2) syndrome is further corroborated with inclusion of OA in the list of the findings associated with the deletion.  (+info)

Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11. (4/1012)

Derivative 22 (der[22]) syndrome is a rare disorder associated with multiple congenital anomalies, including profound mental retardation, preauricular skin tags or pits, and conotruncal heart defects. It can occur in offspring of carriers of the constitutional t(11;22)(q23;q11) translocation, owing to a 3:1 meiotic malsegregation event resulting in partial trisomy of chromosomes 11 and 22. The trisomic region on chromosome 22 overlaps the region hemizygously deleted in another congenital anomaly disorder, velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS). Most patients with VCFS/DGS have a similar 3-Mb deletion, whereas some have a nested distal deletion endpoint resulting in a 1.5-Mb deletion, and a few rare patients have unique deletions. To define the interval on 22q11 containing the t(11;22) breakpoint, haplotype analysis and FISH mapping were performed for five patients with der(22) syndrome. Analysis of all the patients was consistent with 3:1 meiotic malsegregation in the t(11;22) carrier parent. FISH-mapping studies showed that the t(11;22) breakpoint occurred in the same interval as the 1.5-Mb distal deletion breakpoint for VCFS. The deletion breakpoint of one VCFS patient with an unbalanced t(18;22) translocation also occurred in the same region. Hamster-human somatic hybrid cell lines from a patient with der(22) syndrome and a patient with VCFS showed that the breakpoints occurred in an interval containing low-copy repeats, distal to RANBP1 and proximal to ZNF74. The presence of low-copy repetitive sequences may confer susceptibility to chromosome rearrangements. A 1.5-Mb region of overlap on 22q11 in both syndromes suggests the presence of dosage-dependent genes in this interval.  (+info)

Methylation of the ABL1 promoter in chronic myelogenous leukemia: lack of prognostic significance. (5/1012)

The BCR-ABL chromosomal translocation is a central event in the pathogenesis of chronic myelogenous leukemia (CML). One of the ABL1 promoters (Pa) and the coding region of the gene are usually translocated intact to the BCR locus, but the translocated promoter appears to be silent in most cases. Recently, hypermethylation of Pa was demonstrated in CML and was proposed to mark advanced stages of the disease. To study this issue, we measured Pa methylation in CML using Southern blot analysis. Of 110 evaluable samples, 23 (21%) had no methylation, 17 (15%) had minimal (<15%) methylation, 12 (11%) had moderate methylation (15% to 25%), and 58 (53%) had high levels of methylation (>25%) at the ABL1 locus. High methylation was more frequent in advanced cases of CML. Among the 76 evaluable patients in early chronic phase (ECP), a major cytogenetic response with interferon-based therapy was observed in 14 of 34 patients with high methylation compared with 19 of 42 among the others (41% v 45%; P value not significant). At a median follow-up of 7 years, there was no significant difference in survival by ABL1 methylation category. Among patients who achieved a major cytogenetic response, low levels of methylation were associated with a trend towards improved survival, but this trend did not reach statistical significance. Thus, Pa methylation in CML is associated with disease progression but does not appear to predict for survival or response to interferon-based therapy.  (+info)

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. (6/1012)

Velo-cardio-facial syndrome (VCFS) is the most common microdeletion syndrome in humans. It occurs with an estimated frequency of 1 in 4, 000 live births. Most cases occur sporadically, indicating that the deletion is recurrent in the population. More than 90% of patients with VCFS and a 22q11 deletion have a similar 3-Mb hemizygous deletion, suggesting that sequences at the breakpoints confer susceptibility to rearrangements. To define the region containing the chromosome breakpoints, we constructed an 8-kb-resolution physical map. We identified a low-copy repeat in the vicinity of both breakpoints. A set of genetic markers were integrated into the physical map to determine whether the deletions occur within the repeat. Haplotype analysis with genetic markers that flank the repeats showed that most patients with VCFS had deletion breakpoints in the repeat. Within the repeat is a 200-kb duplication of sequences, including a tandem repeat of genes/pseudogenes, surrounding the breakpoints. The genes in the repeat are GGT, BCRL, V7-rel, POM121-like, and GGT-rel. Physical mapping and genomic fingerprint analysis showed that the repeats are virtually identical in the 200-kb region, suggesting that the deletion is mediated by homologous recombination. Examination of two three-generation families showed that meiotic intrachromosomal recombination mediated the deletion.  (+info)

Human pancreatic islets express mRNA species encoding two distinct catalytically active isoforms of group VI phospholipase A2 (iPLA2) that arise from an exon-skipping mechanism of alternative splicing of the transcript from the iPLA2 gene on chromosome 22q13.1. (7/1012)

An 85-kDa Group VI phospholipase A2 enzyme (iPLA2) that does not require Ca2+ for catalysis has recently been cloned from three rodent species. A homologous 88-kDa enzyme has been cloned from human B-lymphocyte lines that contains a 54-amino acid insert not present in the rodent enzymes, but human cells have not previously been observed to express catalytically active iPLA2 isoforms other than the 88-kDa protein. We have cloned cDNA species that encode two distinct iPLA2 isoforms from human pancreatic islet RNA and a human insulinoma cDNA library. One isoform is an 85-kDa protein (short isoform of human iPLA2 (SH-iPLA2)) and the other an 88-kDa protein (long isoform of human iPLA2 (LH-iPLA2)). Transcripts encoding both isoforms are also observed in human promonocytic U937 cells. Recombinant SH-iPLA2 and LH-iPLA2 are both catalytically active in the absence of Ca2+ and inhibited by a bromoenol lactone suicide substrate, but LH-iPLA2 is activated by ATP, whereas SH-iPLA2 is not. The human iPLA2 gene has been found to reside on chromosome 22 in region q13.1 and to contain 16 exons represented in the LH-iPLA2 transcript. Exon 8 is not represented in the SH-iPLA2 transcript, indicating that it arises by an exon-skipping mechanism of alternative splicing. The amino acid sequence encoded by exon 8 of the human iPLA2 gene is proline-rich and shares a consensus motif of PX5PX8HHPX12NX4Q with the proline-rich middle linker domains of the Smad proteins DAF-3 and Smad4. Expression of mRNA species encoding two active iPLA2 isoforms with distinguishable catalytic properties in two different types of human cells demonstrated here may have regulatory or functional implications about the roles of products of the iPLA2 gene in cell biologic processes.  (+info)

A Hirschsprung disease locus at 22q11? (8/1012)

We report a boy with truncus arteriosus, dysmorphic features, developmental delay, passing hypotonia, short segment Hirschsprung disease (HSCR), and paroxysmal hypoventilation. FISH analysis showed an interstitial deletion in chromosome band 22q11.2 coinciding with the deletions found in DiGeorge syndrome and velocardiofacial syndrome. Mutation scanning of RET, GDNF, EDNRB, and EDN3, genes associated with Hirschsprung disease, showed no aberrations. Since we know of two more patients with velocardiofacial syndrome and HSCR, we hypothesise that a gene responsible for proper development of the enteric nervous system may be included in the 22q11.2 region.  (+info)

TY - JOUR. T1 - Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome. AU - Matsuoka, Rumiko. AU - Kimura, Misa. AU - Scambler, Peter J.. AU - Morrow, Bernice E.. AU - Imamura, Shin Ichiro. AU - Minoshima, Shinsei. AU - Shimizu, Nobuyoshi. AU - Yamagishi, Hiroyuki. AU - Joh-o, Kunitaka. AU - Watanabe, Seiichi. AU - Oyama, Kotaro. AU - Saji, Tsutomu. AU - Ando, Masahiko. AU - Takao, Atsuyoshi. AU - Momma, Kazuo. PY - 1998/9/8. Y1 - 1998/9/8. N2 - To investigate molecular and clinical aspects of conotruncal anomaly face (CAF), we studied the correlation between deletion size and phenotype and the mode of inheritance in 183 conotruncal anomaly face syndrome (CAFS) patients. Hemizygosity for a region of 22q11.2 was found in 180 (98%) of the patients with CAFS by fluorescence in situ hybridization (FISH) using the N25(D22S75) DiGeorge critical region (DGCR) probe. No hemizygosity was found in three (2%) of the patients with CAFS by FISH using nine DiGeorge critical ...
Adding to the confusion about 22q11.2DS is its name. It also is known as DiGeorge syndrome, after the endocrinologist who first described four key features, and velocardiofacial syndrome, because of the heart/facial/oral/nasal cavity abnormalities. Other names for the condition that today are rarely used include Shprintzen syndrome, conotruncal anomaly face syndrome, Cayler craniofacial syndrome, congenital thymic aplasia and thymic hypoplasia. Today many professionals prefer the 22q11.2DS label, because it refers to the genetic lesion that occurs in most individuals given one of these diagnoses.. Those affected by 22q11.2DS have a significantly increased risk of developing schizophrenia. While most people with 22q11.2DS do not go on to develop the psychiatric disorder, schizophrenia does develop in approximately 25 to 30 percent of cases, but the reason is not well understood. It occurs in approximately 1 percent of the general population.. Children with 22q11.2 deletion syndrome generally have ...
Well, backing up a bit, in 1968, William Strong, M.D., a physician from Cleveland, reported an association of cardiac abnormalities (right sided aortic arch), learning differences, and a characteristic facial appearance in four members of one family. In 1976, Dr. Kinouchi, a physician in Japan, reported a typical facial appearance specifically seen in patients with heart problems (conotruncal anomalies) and called it conotruncal anomaly face syndrome (CTAF). IN 1978, Robert Shprintzen, Ph.D., a speech pathologist from New York, described a disorder running in families where the patients had a combination of cleft palate or VPI (velopharyngeal-incompetence - the failure of the back of the palate and the throat to close the space connecting the mouth and the nose during normal speech, which causes the patient to sound like he or she has a cold), heart defects, learning disabilities, and a characteristic facial appearance. He called this condition velocardiofacial syndrome (velo means palate or ...
22q11.2 deletion syndrome (DiGeorge Syndrome, VCFS) is a condition caused by a missing section of chromosome 22 and can cause a wide range of health problems.
video clip.. With an estimated human population prevalence of 1:2000, Velo-Cardio-Facial Syndrome (VCFS) is the second-most common multiple anomaly syndrome in humans and almost all children with the syndrome have speech and language impairments that are generally recognized to be complex and difficult to treat.. To demonstrate and to provide clinicians with expert guidance, the authors have produced a comprehensive two-volume set with a combination of text and video demonstrating the clinical features of Velo-Cardio-Facial Syndrome (VCFS); the communication phenotype in VCFS; the natural history of speech and language in VCFS; diagnostic procedures necessary for assessing speech and language disorders in VCFS; the treatment of speech and language impairment in VCFS; and outcomes, demonstrated by video on an accompanying DVD to Volume II.. This volume commences with a survey of the history of VCFS and provides an exhaustive description of the 190 phenotypes associated with the syndrome, ...
Childrens Hospital of Wisconsins Velocardiofacial Syndrome (VCFS) Program has put together resources for families living with VCFS / 22Q deletion syndrome.
Velocardiofacial syndrome (VCFS), also known as 22q11.2 deletion syndrome, is associated with congenital anomalies, neurocognitive deficits, and, in up to 30 pe...
The severity level of DiGeorge syndrome including the associated health complications tend to differ from one patient to another. A majority of the affected individuals have to seek treatment from different types of specialists. Initially, DiGeorge syndrome was referred to by different names such as velocardiofacial syndrome, etc., before the cause was identified as an error occurring in chromosome 22. One may note that despite the fact that the term 22q11.2 deletion syndrome is often used in the current circumstance and which undoubtedly describes the condition, the older names of the condition are also recognized and used today.. ...
PROTOCOL OUTLINE:. Blood samples are collected at diagnosis of chromosome 22q11 deletion and assessed for lymphocyte proliferation in response to mitogens phytohemagglutinin, pokeweed mitogen, and concanavalin A (mitogen stimulation analyses). These analyses are repeated at 4 months along with a quantitative analysis of immunoglobulin.. At 8 months, patients are tested for their lymphocytes ability to respond to antigens (candida, tetanus, and diphtheria). At 1 year, patients have lymphocyte subset, IgG, IgA, and IgM analyses performed. Quantitative evaluations of antibody titers to diphtheria, tetanus, Haemophilus influenza, and hepatitis B are also performed.. Over 1 year of age, all studies are performed if the patient is seen for a single visit. ...
Q: What is DiGeorge syndrome?A: DiGeorge syndrome (DGS) is a genetic disorder caused by the deletion of some of the genes on chromosome 22. There is a lot of variability in how patients are affected by this syndrome, with the manifestations in an individual person depending on exactly which genes are deleted.DGS affects about one in every 5,000 babies. Although DGS may be inherited (in a dominant fashion, so if either parent has it there is a 50 percent chance the child will inherit it), over
Q: What is DiGeorge syndrome?A: DiGeorge syndrome (DGS) is a genetic disorder caused by the deletion of some of the genes on chromosome 22. There is a lot of variability in how patients are affected by this syndrome, with the manifestations in an individual person depending on exactly which genes are deleted.DGS affects about one in every 5,000 babies. Although DGS may be inherited (in a dominant fashion, so if either parent has it there is a 50 percent chance the child will inherit it), over
Q: What is DiGeorge syndrome?A: DiGeorge syndrome (DGS) is a genetic disorder caused by the deletion of some of the genes on chromosome 22. There is a lot of variability in how patients are affected by this syndrome, with the manifestations in an individual person depending on exactly which genes are deleted.DGS affects about one in every 5,000 babies. Although DGS may be inherited (in a dominant fashion, so if either parent has it there is a 50 percent chance the child will inherit it), over
Q: What is DiGeorge syndrome?A: DiGeorge syndrome (DGS) is a genetic disorder caused by the deletion of some of the genes on chromosome 22. There is a lot of variability in how patients are affected by this syndrome, with the manifestations in an individual person depending on exactly which genes are deleted.DGS affects about one in every 5,000 babies. Although DGS may be inherited (in a dominant fashion, so if either parent has it there is a 50 percent chance the child will inherit it), over
TY - JOUR. T1 - Isolation and characterization of a novel gene deleted in digeorge syndrome. AU - Kurahashi, Hiroki. AU - Akagi, Kenzo. AU - Inazawa, Johji. AU - Ohta, Tohru. AU - Niikawa, Norio. AU - Kayatani, Futoshi. AU - Sano, Tetsuya. AU - Okada, Shintaro. AU - Nishisho, Isamu. PY - 1995/4/1. Y1 - 1995/4/1. N2 - The region commonly deleted in DiGeorge syndrome (DGS) has been localized at 22q11.1-q11.2 with the aid of a high resolution banding technique. A 22q11 specific plasmid library was constructed with a microdissection and microcloning method. Dosage analysis proved three of 144 randomly selected microclones to detect hemizygosity in two patients with DGS. Two of the clones were found to contain independent low-copy-number repetitive sequences, all of which were included in the region deleted in the DGS patients. Screening of the cosmid library and subsequent cosmid walking allowed us to obtain two cosmid contigs corresponding to the microclones within the deletion (contig 1 and contig ...
FACES syndrome is a syndrome of unique facial features, anorexia, cachexia, eye and skin anomalies. It is a rare disease and estimated to occur in less than 1 in 1 million people. Friedman E, Goodman RM (1984). "The "FACES" syndrome: a new syndrome with unique facies, anorexia, cachexia, and eye and skin lesions". J. Craniofac. Genet. Dev. Biol. 4 (3): 227-31. PMID 6438152. http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1913&Disease_Disease_Search_diseaseGroup=FACES-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Facial-dysmorphism-anorexia-cachexia-eye-and-skin-anomalies-syndrome&title=Facial-dysmorphism-anorexia-cachexia-eye-and-skin-anomalies-syndrome&search=Disease_Search_ ...
... : treatment - General: There is currently no cure for DiGeorge syndrome (DGS). Supplements with calcium and vitamin D are used to manage an underactive parathyroid gland. A bone marrow transplant may help boost the immune system. Early thymus transplantations are controversial, because their safety and effectiveness remain unclear. Bone marrow transplant (BMT): Bone marrow transplants (BMTs) have been...
Children with VCF can have various other problems, including learning difficulties and frequent ear and sinus infections. They are also at an increased risk for scoliosis (curvature of the spine). The most likely time for scoliosis to occur is during a growth spurt, so it is important to have regular check-ups by the pediatrician while your child is growing. It is possible to prevent or reduce the problem of scoliosis by wearing a back brace or by surgery if it is caught in time. A minor feature of VCF concerns the fingers. The children with VCF often have fingers that are more slender, tapered and hyperextensible compared to other family members. A more serious complication is the risk for psychiatric problems. Whilst 10% of people with VCF have psychiatric problems, 90% will not. If these are going to occur, they tend to start during the teenage years. It is not possible to look at babies with VCF and say which will have scoliosis, learning problems or psychiatric problems. Other problems such ...
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies. ...
TY - JOUR. T1 - Specific cerebellar reductions in children with chromosome 22q11.2 deletion syndrome. AU - Bish, Joel P.. AU - Pendyal, Akshay. AU - Ding, Lijun. AU - Ferrante, Heather. AU - Nguyen, Vy. AU - McDonald-McGinn, Donna. AU - Zackai, Elaine. AU - Simon, Tony J. PY - 2006/5/22. Y1 - 2006/5/22. N2 - Children with chromosome 22q11.2 deletion syndrome commonly are found to have morphological brain changes, cognitive impairments, and elevated rates of psychopathology. One of the most commonly and consistently reported brain changes is reduced cerebellar volume. Here, we demonstrate that, in addition to the global cerebellum reductions previously reported, volumetric reductions of the anterior lobule and the vermal region of the neo-cerebellum in the mid-sagittal plane best differentiate children with the deletion from typically developing children. These results suggest that the morphological changes of specific portions of the cerebellum may be an important underlying substrate of ...
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Genetic differences between people with chromosomal deletion, 22q11.2, or DiGeorge syndrome, who have autism and those with psychosis
Background The microdeletion of chromosome 22q11.2 is the most common human deletion syndrome. It typically presents early in life and is rarely considered in adult patients. As part of the...
Relief is when you and the right researcher find each other Finding the right clinical trial for Chromosome 6q24-q25 deletion syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity. ...
VCFS -- also known as the Shprintzen Syndrome, DiGeorge Sequence and, regrettably, Catch 22 -- is caused by the deletion of a small segment of the long arm of chromosome 22 (specified as 22q11.2 deletion), and is one of the most common genetic disorders in humans. Velo-Cardio-Facial syndrome is characterized by cleft palate, heart abnormalities, learning disabilities, and over 180 other clinical findings
"Faces syndrome" . Le harcèlement scolaire décrypté par la thérapeute Emmanuelle Piquet. ans, les centres chagrin scolaire, afin de les armer face aux attaques quils subissent dans les cours de récréation. Délivrées en trois sessions, ces stratégies de défense se basent sur des jeux
DGCR6L - DGCR6L (untagged)-Human DiGeorge syndrome critical region gene 6-like (DGCR6L) available for purchase from OriGene - Your Gene Company.
Looking for online definition of whistling face syndrome in the Medical Dictionary? whistling face syndrome explanation free. What is whistling face syndrome? Meaning of whistling face syndrome medical term. What does whistling face syndrome mean?
Nadia Zomorodian is one of the approximately 2,000-4,000 children born each year with 22q11.2 deletion syndrome. Although it receives less public awareness, it is believed that 22q11.2 deletion syndrome is as common as Down syndrome.From Day One, Nadia was a fighter. She was born with a congenital heart defect, which required surgery when she was only one week old. Nadia was also born with a cleft palate, which made it difficult for her to breathe and swallow properly, and caused her to develop aspiration pneumonia a total of 12 times before she was even two years old. She was in and out of the hospital throughout her infant and toddler years, and at age three was finally given the diagnosis of Velocardiofacial Syndrome, now commonly known as 22q11.2 Deletion Syndrome.. 22q11.2 deletion syndrome is a genetic disorder caused by a deleted or missing section of chromosome 22. The deleted segment is present at the time of conception and in 10% of cases is believed to be inherited from a parent; in ...
VCFS Texas, Inc. The purpose of VCFS Texas, Inc. (22q Texas) is to provide support and resources to individuals with 22q11.2 deletion syndrome a.k.a. Velocardiofacial syndrome (VCFS) or DiGeorge syndrome (collectively "22q"), their families, professionals, and the community in Texas. We achieve this purpose by: - Increasing public awareness and understanding about VCFS/22q; - Creating a forum for the exchange of information, ideas and experiences related to VCFS/22q; - Improving the provision of services and supports to people with VCFS/22q through governmental agencies, the medical and therapeutic community, educational institutions and non-profit organizations; - Providing education, resources and support to parents and educators to ensure quality medical and therapeutic treatment for individuals with VCFS/22q in accordance with up-to-date scientific research; - Providing educational resources and support to parents and educators to ensure quality education which will prepare individuals ...
Polymicrogyria is a brain malformation due to abnormal cortical organization. Two histological types, unlayered or four-layered can be distinguished. Polymicrogyria is a rare manifestation of chromosome 22q11 deletion syndrome. We report two boys with chromosome 22q11 deletion syndrome and polymicrogyria, and describe the neuropathological features of the malformation in one of them. Clinical examinations, EEG, brain MRI, chromosomal analysis with FISH, and neuropathological studies of surgically resected cortical tissue were performed. Both patients showed severe developmental delay with cardiovascular malformations and one of them had drug resistant epilepsy. Polymicrogyria was found in the frontal, parietal, and temporal areas, unilaterally in one patient and bilaterally in the other. Histology revealed four-layered polymicrogyria. The pathogenesis of polymicrogyria in 22q11 deletion syndrome is discussed.
Validation study and pilot projects in several European countries demonstrated highest test accuracies for the detection of the 22q11 deletion syndrome. Konstanz, January 18, 2016 - PrenaTest®, Europes first NIPT, now also routinely tests for the DiGeorge syndrome, also known as 22q11 deletion syndrome. By adding this microdeletion as the most common genetic microdeletion syndrome occurring in about one out of 3,000 births, LifeCodexx now offers a non-invasive prenatal test (NIPT) with one of the largest test panels available today at highest accuracy.. For validation of the examination method data from synthetic pooled DNA samples as well as from several blood samples from pregnant women, whose unborn children had a 22q11.2 microdeletion, were examined. In all cases the microdeletion was correctly detected without any false-positive or false-negative results. Starting May 2016, the results of the validation study were confirmed during pilot projects in several European countries with the aim ...
Abstract: The COMT gene is thought to contribute to the cognitive/psychiatric phenotypes in 22q11.2 deletion syndrome. We measured these manifestations against the Val/Met alleles of the COMT gene, in 40 nonpsychotic 22q11DS children. The Val allele was associated with poor IQ, processing speed, executive function and a higher frequency of anxiety disorders, underscoring the importance of the COMT gene in the childhood psychopathology in 22q11DS.. COMT and anxiety and cognition in children with chromosome 22q11.2 deletion syndrome ...
Most people with 22q11.2 deletion syndrome are missing about 30 to 40 genes. The exact function of many of these genes remains a mystery. But one gene, TBX1, probably accounts for the syndromes most common physical symptoms, including heart problems and cleft palate. Another nearby gene, called COMT, may also help explain the increased risk for behavior problems and mental illness in people with the syndrome.. About 90 percent of 22q11.2 deletion syndrome cases occur randomly at fertilization or early in fetal development. So most people affected with the disorder have no previous family history of it. However, they may pass the condition on to their children. The remaining 10 percent of cases are inherited from either the mother or the father. When the condition is inherited, other family members could also be affected. Because a person who has this chromosome deletion has a 50 percent chance of passing the deletion to a child, both parents are generally offered the opportunity to have their ...
Most people with 22q11.2 deletion syndrome are missing about 30 to 40 genes. The exact function of many of these genes remains a mystery. But one gene, TBX1, probably accounts for the syndromes most common physical symptoms, including heart problems and cleft palate. Another nearby gene, called COMT, may also help explain the increased risk for behavior problems and mental illness in people with the syndrome.. About 90 percent of 22q11.2 deletion syndrome cases occur randomly at fertilization or early in fetal development. So most people affected with the disorder have no previous family history of it. However, they may pass the condition on to their children. The remaining 10 percent of cases are inherited from either the mother or the father. When the condition is inherited, other family members could also be affected. Because a person who has this chromosome deletion has a 50 percent chance of passing the deletion to a child, both parents are generally offered the opportunity to have their ...
Objective The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans. It is characterised by wide phenotypic variability, including congenital heart disease (CHD), immunodeficiency and scoliosis. However, little is known regarding the prevalence and characteristics of scoliosis in patients with 22q11.2DS. The objective of this study is to assess the prevalence of scoliosis, its characteristics and the association with CHD in patients with 22q11.2DS. ...
Mutation analysis of our cohort of non-deleted patients did not detect any cases with unambiguous loss of TBX1 function. Considering the strong experimental evidence for a major role of TBX1 in the 22q11 deletion syndrome from the deletion studies in the mouse,14-16 our findings are somewhat surprising. In contrast to our results, the majority of mutations inTBX5 in association with Holt-Oram syndrome are predicted to produce haploinsufficiency by nonsense or frameshift mutations within the T box region.12 13 23 Similarly, five of the 10 published mutations in TBX3, found in patients with ulnar-mammary syndrome, are predicted to disrupt the DNA binding domain.24 It is likely that the aetiology of non-deleted DGS/VCFS patients is heterogeneous. Malformations similar to those seen in the 22q11 deletion syndrome have been associated with prenatal exposure to retinoic acids and ethanol, maternal diabetes, and deletions of the short arm of chromosome 10. Therefore, it is possible that mutations ...
DiGeorge syndrome, or 22q11.2 deletion syndrome, is a genetic disorder that can display itself in a variety of ways. Its quite rare and children with the
Monosomy 1p36 Deletion Syndrome 1p36 deletion syndrome is a chromosome disorder. A chromosome disorder is a change in chromosome number or structure which results in a set of features or symptoms. People with 1p36 deletion syndrome have lost a small but variable amount of genetic material from one of their 46 chromosomes. 1p36 deletion syndrome was described for the first time in the late 1990s, although the first case of a child with a deletion of 1p36 was published in 1981. Most reports suggest that 1p36 deletions affect girls more often than boys - around 65 per cent of reported cases are girls. Unique families support this: 73 per cent of the children with 1p36 deletion syndrome are girls. The reasons for this are, as yet, not known.
DiGeorge Syndrome is a primary immunodeficiency disease caused by abnormal migration and development of certain cells and tissues during fetal development. As part of the developmental defect, the thymus gland may be affected and T-lymphocyte production may be impaired, resulting in low T-lymphocyte numbers and frequent infections.
Medical definition of DiGeorge syndrome: a rare congenital disease that is characterized especially by absent or underdeveloped thymus and parathyroid glands, heart defects, immunodeficiency, hypocalcemia, and characteristic facial features (as wide-set eyes, small jaws, and low-set ears) and is typically caused by a deletion on the chromosome numbered 22.
Overview of Chromosome 8q deletion syndrome as a medical condition including introduction, prevalence, prognosis, profile, symptoms, diagnosis, misdiagnosis, and treatment
DiGeorge syndrome. // Tabers Cyclopedic Medical Dictionary;2005, p599 A definition of the medical term "DiGeorge syndrome" is presented. DiGeorge syndrome refers to a congenital aplasia or hypoplasia of the thymus. It is caused by a missing gene on chromosome 22 and subsequent deficiency of competent T lymphocytes and cell-mediated immunity. Its characteristics... ...
DiGeorge syndrome is caused by a problem called 22q11 deletion. This is where a small piece of genetic material is missing from a persons DNA.. In about 9 in 10 (90%) cases, the bit of DNA was missing from the egg or sperm that led to the pregnancy. This can happen by chance when sperm and eggs are made. It isnt a result of anything you did before or during the pregnancy.. In these cases, theres usually no family history of DiGeorge syndrome and the risk of it happening again to other children is very small.. In around 1 in 10 (10%) cases, the 22q11 deletion is passed on to a child by a parent who has DiGeorge syndrome, although they may not realise they have it if its mild.. ...
DiGeorge syndrome is caused by a problem called 22q11 deletion. This is where a small piece of genetic material is missing from a persons DNA.. In about 9 in 10 (90%) cases, the bit of DNA was missing from the egg or sperm that led to the pregnancy. This can happen by chance when sperm and eggs are made. It isnt a result of anything you did before or during the pregnancy.. In these cases, theres usually no family history of DiGeorge syndrome and the risk of it happening again to other children is very small.. In around 1 in 10 (10%) cases, the 22q11 deletion is passed on to a child by a parent who has DiGeorge syndrome, although they may not realise they have it if its mild.. ...
In the present study, we further analyzed flanking genes of 3p25 syntenic members identified in the Torafugu genomic database and determined their expression with cDNA isolated from ovary and liver. CECR5 was found in the upstream of RAF1 and CECR6 downstream of MKRN1 in Torafugu genomic scaffolds. In addition, the last exon of IL17R was located downstream of CECR6 on the opposite strand, in the same configuration as seen in human chromosome 22q11, with a high degree of conservation in sequence similarity and exon/intron structures. These results supported that the major part of the long arm of human chromosome 22 (q11 to q13), with a collinear order of IL17R, CECR6, and CECR5 (22q11) and SYN3 (22q12) and PPARA (22q13), is homologous to the ancestral 3p25 synteny containing a similar paralogous set of reference genes (SYN, PPAR, MKRN, RAF, CECR5, CECR6, and IL17R). It is also noted that CECR5, CECR6, and IL17R were likely to be functional in fish because their cDNAs were obtained from liver or ...
This 5 year competing application describes an opportunity to explore the long term outcomes of thymus transplantation in detail, with particular focus on the r...
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What causes DiGeorge syndrome? As mentioned, 90 percent of patients with the features of this syndrome are missing a small part of their chromosome 22 at the q11 region. This region encompasses about 30 individual genes and results in developmental defects in specific structures throughout the body. It is not known why this region of chromosome 22 is prone to become deleted, but this is one of the most frequent chromosome defects in newborns. Deletion 22q11.2 is estimated to occur in one in 3,000 to 4,000 live births. Most of the 22q11.2 deletion cases are new occurrences or sporadic (occurs by chance). However, in about 10 percent of families, the deletion is inherited and other family members are affected or at risk for passing this deletion to their children. The gene is autosomal dominant, therefore, any person who has this deletion has a 50 percent chance of passing the deletion to a child. For this reason, whenever a deletion is diagnosed, both parents are offered the opportunity to have ...
Edelmann L, Spiteri E, McCain N, Goldberg R, Pandita RK, Duong S, Fox J, Blumenthal D, Lalani SR, Shaffer LG, Morrow BE, A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation. Am J Hum Genet65(6):1608-16 ...
Caden Gabriel is the son of Hank and Sherry Osborne of Goose Creek, SC. Caden was born November 2004 with 22q11.2 - DiGeorge Syndrome.
Complete information for DEL4Q21 gene (Uncategorized), Chromosome 4q21 Deletion Syndrome, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
Complete information for DEL2Q23.1 gene (Uncategorized), Chromosome 2q23.1 Deletion Syndrome, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
The DiGeorge N25 Chromosome Region Probe is a Dual Color, directly labeledprobe for detection of the D22S75 locus. The SpectrumGreen LSI controlprobe (22q13) identifies the presence of both 22 chromosomes. The D22S75locus is located within the DiGeorge/VCFS critical region. The N25 probe isknown to contain the N25 locus ...
Learn in-depth information on Molecular Testing for Extrarenal Rhabdoid Tumor, on why the laboratory test is performed, specimen collected, the significance of the results, and its use in diagnosing medical conditions.
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NIH Rare Diseases : 52 Proximal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted ) copy of genetic material from the part of the long (q) arm near the center of chromosome 18 . The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with proximal chromosome 18q deletion syndrome include developmental delay , intellectual disability , and distinctive facial features. The might also have seizures , low muscle tone (hypotonia ), speech and language delays, obesity, and short stature . Chromosome testing of both parents can provide more information on whether or not the deletion was inherited . In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation , where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic ...
Schizophrenia or schizoaffective disorders are often found in patients affected by DiGeorge/velo-cardio-facial syndrome (DGS/VCFS) as a result of hemizygosity of chromosome 22q11.2. We evaluated the UFD1L gene, mapping within the DGS/VCFS region, as a potential candidate for schizophrenia susceptibility. UFD1L encodes for the ubiquitin fusion degradation 1 protein, which is expressed in the medial telencephalon during mouse development. Using case control, simplex families (trios), and functional studies, we provided evidence for association between schizophrenia and a single nucleotide functional polymorphism, -277A/G, located within the noncoding region upstream the first exon of the UFD1L gene. The results are supportive of UFD1L involvement in the neurodevelopmental origin of schizophrenia and contribute in delineating etiological and pathogenetic mechanism of the schizophrenia subtype related to 22q11.2 deletion syndrome. ...
TY - JOUR. T1 - DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation. AU - Kato, Takema. AU - Inagaki, Hidehito. AU - Tong, Maoqing. AU - Kogo, Hiroshi. AU - Ohye, Tamae. AU - Yamada, Kouji. AU - Tsutsumi, Makiko. AU - Emanuel, Beverly S.. AU - Kurahashi, Hiroki. PY - 2011/9/14. Y1 - 2011/9/14. N2 - Background. Cumulative evidence suggests that DNA secondary structures impact DNA replication, transcription and genomic rearrangements. One of the best studied examples is the recurrent constitutional t(11;22) in humans that is mediated by potentially cruciform-forming sequences at the breakpoints, palindromic AT-rich repeats (PATRRs). We previously demonstrated that polymorphisms of PATRR sequences affect the frequency of de novo t(11;22)s in sperm samples from normal healthy males. These studies were designed to determine whether PATRR polymorphisms affect DNA secondary structure, thus leading to variation in translocation frequency. ...
It is well established that DiGeorge syndrome (DGS) may be associated with monosomy of 22q11-pter. More recently, DNA probes have been used to detect hemizygosity for this region in patients with no visible karyotypic abnormality. However, DGS has also been described in cases where the cytogenetic abnormality does not involve 22q11; for instance, four cases of 10p- have been reported. In this study we have prospectively analyzed patients, by using DNA markers from 22q11, to assess the frequency of 22q11 rearrangements in DGS. Twenty-one of 22 cases had demonstrable hemizygosity for 22q11. Cytogenetic analysis had identified interstitial deletion in 6 of 16 cases tested; in 6 other cases no karyotype was available. When these results are combined with those from our previous studies, 33 of 35 DGS patients had chromosome 22q11 deletions detectable by DNA probes.
... is a chromosomal disorder in which there are three copies of chromosome 22 rather than two. It is a frequent cause of spontaneous abortion during the first trimester of pregnancy . Progression to the second trimester and live birth are rare. This disorder is found in individuals with an extra copy or a variation of chromosome 22 in some or all cells of their body. There are many kinds of disorders associated with Trisomy 22: Emanuel Syndrome is named after the genetic contributions made by researcher Dr. Beverly Emanuel. This condition is assigned to individuals born with an unbalanced 11/22 translocation . That is, a fragment of chromosome 11 is moved, or translocated, to chromosome 22. 22q11 Deletion Syndrome is a rare condition which occurs in approximately 1 in 4000 births. This condition is identified when a band in the q11.2 section of the arm of chromosome 22 is missing or deleted. This condition has several different names: 22q11.2 Deletion Syndrome, Velocardiofacial syndrome,
DiGeorge syndrome has a cleft palate, cleft lip, heart defects, strabismus, ptosis, a small mouth, puffiness around the eyes and parathyroid disorders.
Learn more about DiGeorge Syndrome at Atlanta Outpatient Surgery Center DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
... , also known as Monosomy 13q syndrome, is a rare disorder described in the database for rare diseases of the Swedish National Board of Health and Welfare.
Eberle, P O. Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome. 2009, University of Zurich, Faculty of Medicine. ...
Thats why we studied the development of this structure in detail," continues the UNIGE researcher, "so we could understand why some people affected by deletion syndrome eventually develop psychotic symptoms, while others dont.". 18-year study investigating the development of the hippocampus. The Geneva team has been following 275 patients aged 6 to 35 years for 18 years: a control groups of 135 individuals - i.e. individuals without genetic problems - and 140 people with deletion syndrome, including 53 with moderate to severe psychotic symptoms. "They underwent an MRI every three years so that we could observe their brain development," says Valentina Mancini, a researcher in UNIGEs Department of Psychiatry.. "This has helped us create a statistical model that measures and compares the development of the hippocampus in both groups of patients." It was discovered that the hippocampus of the group affected by deletion syndrome, although smaller from the beginning, followed a growth curve ...
Chromosome 22q11.2 deletion syndrome (22q11DS) is the most common human microdeletion syndrome and is associated with many cognitive, neurological and psychiatric disorders. The majority of individuals have a 3 Mb deletion while others have a nested 1.5 Mb deletion, but rare atypical deletions have also been described. To date, a study using droplet digital PCR (ddPCR) has not been conducted to systematically map the chromosomal breakpoints in individuals with 22q11DS, which would provide important genotypic insight into the various phenotypes observed in this syndrome.This study uses ddPCR to assess copy number (CN) changes within the chromosome 22q11 deletion region and allows the mapping of the deletion endpoints. We used eight TaqMan assays interspersed throughout the deleted region of 22q11.2 to characterize the deleted region of chromosome 22 in 80 individuals known to have 22q11DS by FISH. Ten EvaGreen assays were used for finer mapping of the six identified individuals with 22q11DS ...
Researchers used a mouse model that mimics 22q11 deletion syndrome, also known as DiGeorge syndrome. People with this syndrome are more likely to develop psychiatric conditions, including Schizophrenia.
Learn about the causes, symptoms, diagnosis & treatment of Chromosome and Gene Abnormalities from the Home Version of the Merck Manuals.
Information, Tools, and Resources to aid Primary Care Physicians in caring for Children with Special Health Care Needs (CSHCN) and providing a Medical Home for all of their patients.
View Zdhhc17/Zdhhc17 FVB.129P2-Zdhhc17: phenotypes, images, diseases, and references.
Drew is a happy 7-year-old who loves his family, his friends, and everything Star Wars! He was born with a CHD, specifically interrupted aortic arch, VSD, hypoplastic aortic root and DiGeorge Syndrome. He has had three open-heart surgeries, the most recent was in May 2008 at Stanford. He is so strong and brave and we are very proud of him. ...
Calvin turned 4!! And Im calling this my 22q awareness post for this month :) My oldest son, Calvin, was born with 22q11.21 Deletion Syndrome - meaning that he is missing a teeny tiny section of genes on his 22nd chromosome. 22q DS is not all that uncommon, and has gone by several different names…
As part of its mission to promote awareness regarding 22q11.2 deletion syndrome, The 22q Family Foundation strives to provide timely content from credible sources through channels that include but are not limited to this website. All content is made available for information purposes only. The Foundation gives no assurance or warranty, nor makes any endorsement or other representation, as to the accuracy, completeness, or validity of such content. Each person accessing this site is responsible for making his/her own assessment of the information provided.. ...
Though there are conflict ideas and proposals on the constitutional review exercise, the National Assembly says it would not concede to any views or issues capable of disuniting the nation.
太田 竜 , 小根山 正貴 , 高橋 保正 , 河原 祐一 , 北村 雅也 , 後藤 学 , 関川 浩司 , 桶田 理喜 , 竹之下 誠一 日本消化器外科学会雑誌 42(3), 282-287, 2009-03-01 CiNii PDF - オープンアクセス J-STAGE 医中誌Web 参考文献17件 ...
TY - JOUR. T1 - Velopharyngeal anatomy in 22q11.2 deletion syndrome. T2 - A three-dimensional cephalometric analysis. AU - Ruotolo, Rachel A.. AU - Veitia, Nestor A.. AU - Corbin, Aaron. AU - McDonough, Joseph. AU - Solot, Cynthia B.. AU - McDonald-McGinn, Donna. AU - Zackai, Elaine H.. AU - Emanuel, Beverly S.. AU - Cnaan, Avital. AU - LaRossa, Don. AU - Arens, Raanan. AU - Kirschner, Richard E.. PY - 2006/7/1. Y1 - 2006/7/1. N2 - Objective: 22q11.2 deletion syndrome is the most common genetic cause of velopharyngeal dysfunction (VPD). Magnetic resonance imaging (MRI) is a promising method for noninvasive, three-dimensional (3D) assessment of velopharyngeal (VP) anatomy. The purpose of this study was to assess VP structure in patients with 22q11.2 deletion syndrome by using 3D MRI analysis. Design: This was a retrospective analysis of magnetic resonance images obtained in patients with VPD associated with a 22q11.2 deletion compared with a normal control group. Setting: This study was conducted ...
Chromosome 22q11.2 heterozygous deletions cause the most common deletion syndrome, including the DiGeorge syndrome phenotype. Using a mouse model of this deletion (named Df1) we show that the aortic arch patterning defects that occur in heterozygously deleted mice (Df1/+) are associated with a differentiation impairment of vascular smooth muscle in the 4th pharyngeal arch arteries (PAAs) during early embryogenesis. Using molecular markers for neural crest, endothelial cells and vascular smooth muscle, we show that cardiac neural crest migration into the 4th arch and initial formation of the 4th PAAs are apparently normal in Df1/+ embryos, but affected vessels are growth-impaired and do not acquire vascular smooth muscle. As in humans, not all deleted mice present with cardiovascular defects at birth. However, we found, unexpectedly, that all Df1/+ embryos have abnormally small 4th PAAs during early embryogenesis. Many embryos later overcome this early defect, coincident with the appearance of ...
NIH Rare Diseases : 50 distal chromosome 18q deletionsyndromeis a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18. the severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. features that often occur in people with distal chromosome 18q deletion syndrome include developmental delay, intellectual disability, behavioral problems and distinctive facial features. chromosome testing of both parents can provide more information on whether or not the deletion was inherited. in most cases, parents do not have any chromosomal anomaly. however, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. the balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an ...
22q11.2 Deletion Syndrome (22q11.2DS) is one of the strongest known risk factors for schizophrenia. The syndrome provides a rare opportunity to prospectively examine development that precedes schizophrenia. 22q11.2DS is also associated with a range of psychiatric disorders and cognitive deficits. The overall aim of this thesis is to examine the neuropsychiatric phenotype of 22q11.2DS through a developmental lens. This thesis uses data from Cardiff Universitys ECHO (Experiences of CHildren with cOpy number variants) study which includes a longitudinal cohort of children with 22q11.2DS. Development in 22q11.2DS is contrasted to that of the unaffected siblings of children with 22q11.2DS. First psychopathology is examined longitudinally across early adolescence in 22q11.2DS. Children with 22q11.2DS have a significant burden of psychopathology across early adolescence, including attention-deficit/hyperactivity disorder (ADHD), anxiety disorders and autism spectrum disorder (ASD). There is a striking ...
Background. 22q11.2 deletion syndrome (22q11.2DS) is associated with a high risk of childhood as well as adult psychiatric disorders, in particular schizophrenia. Childhood cognitive deterioration in 22q11.2DS has previously been reported, but only in studies lacking a control sample.. Aims. To compare cognitive trajectories in children with 22q11.2DS and unaffected control siblings.. Method. A longitudinal study of neurocognitive functioning (IQ, executive function, processing speed and attention) was conducted in children with 22q11.2DS (n = 75, mean age time 1 (T1) 9.9, time 2 (T2) 12.5) and control siblings (n = 33, mean age T1 10.6, T2 13.4).. Results. Children with 22q11.2DS exhibited deficits in all cognitive domains. However, mean scores did not indicate deterioration. When individual trajectories were examined, some participants showed significant decline over time, but the prevalence was similar for 22q11.2DS and control siblings. Findings are more likely to reflect normal ...
Dopamine metabolism in adults with 22q11 deletion syndrome, with and without schizophrenia--relationship with COMT Val¹⁰⁸/¹⁵⁸Met polymorphism, gender and symptomatology. - Erik Boot, Jan Booij, Nico Abeling, Julia Meijer, Fabiana da Silva Alves, Janneke Zinkstok, Frank Baas, Don Linszen, Thérèse van Amelsvoort
Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms. The most common congenital anomalies involve the palate in 80% of patients, and the heart in 50-60% of them. The cause of the phenotypic variability is unknown. Patients usually harbor one of three common deletions sizes: 3, 2 and 1.5 Mb, between low copy repeats (LCR) designated A-D, A-C and A-B, respectively. This study aimed to analyze the association between these 3 deletion sizes and the presence of congenital cardiac and/or palatal malformations in individuals with this condition. A systematic review and meta-analysis were conducted, merging relevant published studies with data from Chilean patients to increase statistical power. Eight articles out of 432 were included; the data from these studies was merged with our own, achieving a total of 1514 and 487 patients to evaluate cardiac and palate malformations, respectively. None
MONDAY, Sept. 9 (HealthDay News) -- A genetic deletion may be linked to some cases of early onset Parkinsons disease, researchers say.. The investigators found that people aged 35 to 64 who were missing DNA on a specific part of chromosome 22 were about 90 times more likely to develop Parkinsons than people from the same age group in the general population.. People with this inherited genetic condition -- called 22q11.2 deletion syndrome -- have about 50 genes missing on chromosome 22. The condition occurs in about one in 2,000 to 4,000 people, and those with this genetic deletion may have birth defects (including heart defects), learning or speech difficulties, anxiety disorders, or schizophrenia.. Previously reported cases of patients with 22q11.2 deletion syndrome and Parkinsons disease symptoms have indicated that there may be a link between the two conditions, according to the researchers from the Center for Addiction and Mental Health and University Health Network in Toronto.. Dr. Anne ...
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Use cautiously in patients taking agents that raise or lower blood pressure, in patients with diabetes or hypoglycemia or those taking agents that affect blood sugar, in patients with immune disorders or those using immunosuppressants, in patients using agents that may increase the risk of abnormal heart rhythms, in patients with fair skin or those using light-sensitizing agents, in patients with mental health disorders, in patients taking opiates, in patients prone to seizures, in patients using alcohol, in patients with sleep or "heat" disorders, and in children. Use cautiously during the perioperative period. Avoid in patients with bleeding disorders or those taking agents that may increase the risk of bleeding. Avoid in patients with known allergy or sensitivity to Panax species, their constituents, or to other members of the Araliaceae family. Avoid in pregnant or breastfeeding women. Avoid use of large amounts in infants. Over-the-counter combination products containing ginseng may be ...
Most cleft lips and palates are a one-off and its unlikely youll have another child with the condition.. The risk of having a child with a cleft lip or palate is slightly increased if youve had a child with the condition before, but the chances of this happening are thought to be around 2-8%.. If either you or your partner were born with a cleft, your chance of having a baby with a cleft is also around 2-8%. Most children of parents who had a cleft will not be born with a cleft.. The chances of another child being born with a cleft or of a parent passing the condition to their child can be higher in cases related to genetic conditions.. For example, a parent with 22q11 deletion syndrome (DiGeorge syndrome) has a 50% chance of passing the condition to their child.. ...
The accuracy of the DNA sequence is critical to scientists who study diseases linked to chromosome 22, such as the DiGeorge syndrome. Infants born with this rare condition are missing a large portion of chromosome 22. As a result, they develop recurrent infections and heart problems. When youre working on a chromosomal region where a gene for a disease has been mapped, its important to know exactly which genes are in that region, says Dunham, who also worked on the original sequence. The new analysis, he believes, makes it fairly certain that scientists now know all of the genes on chromosome 22 that code for proteins. The findings appear in Genome Research. When the new analysis of chromosome 22 was completed, the total number of known genes increased only by one, to 546. But the number of pseudogenes more than doubled (to 234). Pseudogenes are gene-like stretches of DNA that apparently are not real genes; it is not clear what these pseudogenes do or why they are there.. The researchers ...
Microdeletions and microduplications in the genome are caused by chromosome misalignment between blocks of region‐specific low copy repeats and result in genomic disorders
It has been estimated that about 10% of patients with autism also carry an identifiable genetic abnormality. One genetic syndrome that confers an increased ASD risk is 22q11.2 deletion syndrome (22q11.2 DS; velocardiofacal syndrome, VCFS), with up to about 40% of the patients developing ASD.
Background Chromosome 6pter-p24 deletion syndrome (OMIM #612582) is a recognized chromosomal disorder. Most of the individuals with this syndrome carry a terminal deletion of the short arm of...
Liebe Leserinnen und Leser, soviel Unterstützung ist fast schon unheimlich: Die Drogenbeauftragte der Bundesregierung Mechthild Dyckmans, die SPD-Bundestagsabgeordnete und Drogenbeauftragte ihrer Fraktion Angelika Graf (Rosenheim) und Dr.Christoph von Ascheraden, Mitglied im Vorstand der Bundesärztekammer, trugen den Protest der substituierenden Ärzteschaft gegen Honorkürzungen bei der Kassenärztlichen Bundesvereinigung vor. Das Ergebnis lautet: Die KBV wird die substituierenden Hausärzte aus den geplanten Regelungen zu den abweichenden Versorgungsleistungen herausnehmen. (DGS) Die BtMVV-Änderungsinitiative der DGS geht in die nächste Runde - der Vorstand hat die Vorschläge aktualisiert. (DGS) Die Zahl der Drogentoten 2012 ist auf dem niedrigsten Stand seit 1988 - Methamphetamin wird über die grenznahen Regionen hinaus zum Problem. (DGS, Begleitkrankheiten/Drogentodesfälle, Drogenpolitik, Substanzen/Amphetamine). Die Deutsche Hauptstelle für Suchtfragen hat das aktuelle Jahrbuch ...
A. Help Senator Kennedy Establish Priorities. Progressive constitutional theorists are better advised to help Senator Edward Kennedy than Justice Anthony Kennedy. Liberal Democrats currently lack the power necessary to make their constitutional vision the fundamental law of the land. They may, however, influence official constitutional meanings at the margin by taking advantage of the filibuster and other legislative practices that permit cohesive minorities in the national legislature to exercise some power. This strategy acknowledges that national official holders on the left can presently do little more politically than avert really [End Page 90] destructive outcomes. Hence, some theoretical energy ought to be spent distinguishing the constitutionally terrible from the merely constitutionally bad. Persons out of power require a constitutional theory that makes gradations among constitutional injustices rather than one that merely identifies constitutional injustices. Little such theory exists ...
A blog about farming, unschooling, feminism, 22q deletion syndrome, cooking real food, homesteading, permaculture, and motherhood.
A blog about farming, unschooling, feminism, 22q deletion syndrome, cooking real food, homesteading, permaculture, and motherhood.
The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene ...
Researchers at Cardiff University discuss their research into developing new therapies for people with 22q11.2 Deletion Syndrome.
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A premature female infant had the characteristic features of the median cleft face syndrome in association with holoprosencephaly, agenesis of the corpus callosum, hydrocephalus and choanal atresia....
Objective: Velo-cardio-facial syndrome (VCFS) is caused by a microdeletion of approximately 40 genes from one copy of chromosome 22. Expression of the syndrome is a variable combination of over 190 phenotypic characteristics. As of yet, little is known about how these phenotypes correlate with one another or whether there are predictable patterns of expression. Two of the most common phenotypic categories, congenital heart disease and cleft palate, have been proposed to have a common genetic relationship to the deleted T-box 1 gene (TBX1). The purpose of this study is to determine if congenital heart disease and cleft palate are correlated in a large cohort of human subjects with VCFS. Methods: This study is a retrospective chart review including 316 Caucasian non-Hispanic subjects with FISH or CGH microarray confirmed chromosome 22q11.2 deletions. All subjects were evaluated by the interdisciplinary team at the Velo-Cardio-Facial Syndrome International Center at Upstate Medical University, Syracuse, NY
The features of this syndrome vary widely, even among members of the same family, and affect many parts of the body. Characteristic signs and symptoms may include birth defects such as congenital heart disease, defects in the palate, most commonly related to neuromuscular problems with closure (velo-pharyngeal insufficiency), learning disabilities, mild differences in facial features, and recurrent infections. Infections are common in children due to problems with the immune systems T-cell mediated response that in some patients is due to an absent or hypoplastic thymus. 22q11.2 deletion syndrome may be first spotted when an affected newborn has heart defects or convulsions from hypocalcemia due to malfunctioning parathyroid glands and low levels of parathyroid hormone (parathormone). Affected individuals may also have any other kind of birth defect including kidney abnormalities and significant feeding difficulties as babies. Autoimmune disorders such as hypothyroidism and hypoparathyroidism ...
The chapters are numbered for the pairs of human chromosomes, one pair being the X and Y sex chromosomes, so the numbering goes ... The book devotes one chapter to each pair of human chromosomes. Since one (unnumbered) chapter is required to discuss the sex ... the chapters matching the 23 pairs of human chromosomes, and notes that Genome is the third of Ridley's books that "tries to ... The impact of stress on the human body is described starting with the creation of hormones by the CYP17 gene on chromosome 10. ...
... 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 ... Section structure of Homologous chromosome: Homologous chromosomes are chromosomes which contain the same genes in the same ... What about the X chromosome and Y chromosome in male humans? By the definition they do not belong to any homologous set, since ...
"Hierarchical patterns of global human Y-chromosome diversity". Mol Biol Evol. 18 (7): 1189-203. doi:10.1093/oxfordjournals. ... Evolution & Human Behavior 24: 99-112. Full text. *Knight, C. 2008. Early human kinship was matrilineal. In N. J. Allen, H. ... Early human kinship was matrilineal. In N. J. Allen, H. Callan, R. Dunbar and W. James (eds.), Early Human Kinship. Oxford: ... contains fewer genes than an X chromosome because it is shorter and is one of his two sex chromosomes, the other being the X ...
The chapters are numbered for the pairs of human chromosomes, one pair being the X and Y sex chromosomes, so the numbering goes ... The book devotes one chapter to each pair of human chromosomes. Since one (unnumbered) chapter is required to discuss the sex ... the chapters matching the 23 pairs of human chromosomes, and notes that Genome is the third of Ridley's books that "tries to ... Ridley concludes that the Human Genome Project is largely based on the inaccurate belief that there is one single human genome ...
A regular human carries 23 pairs of chromosomes in his or her cells. Cells containing two pairs of chromosomes are known as ... or a total of 69 chromosomes. Triploidy is distinct from trisomy, in which only one chromosome exists in three pairs. A well- ... Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes ( ... and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). Having two or ...
... is a protein that in humans is encoded by the TRAPPC2 gene. A processed pseudogene of this gene is located on chromosome 19, ... "Human PubMed Reference:". "Mouse PubMed Reference:". Gecz J, Shaw MA, Bellon JR, de Barros Lopes M (November 2003). "Human wild ... and other pseuodogenes of it are found on chromosome 8 and the Y chromosome. Two transcript variants encoding the same protein ... The TRAPPC2 gene is located on the X-chromosome at position 22 between base-pairs 13,712,241 to 13,734,634. Mutations in this ...
In humans, each cell nucleus contains 23 pairs of chromosomes, a total of 46 chromosomes. The first 22 pairs are called ... The chromosomes of the 23rd pair are called allosomes consisting of two X chromosomes in women, and an X chromosome and a Y ... is a chromosome that differs from an ordinary autosome in form, size, and behavior. The human sex chromosomes, a typical pair ... X chromosome carry about 1500 genes, more than any other chromosome in the human body. Most of them code for something other ...
Chromosome abnormalities are detected in 1 of 160 live human births. Most cells in the human body have 23 pairs of chromosomes ... The 23rd pair of chromosomes are the sex chromosomes. Normal females have two X chromosomes, while normal males have one X ... But sometimes, the whole pair of chromosomes will end up in one gamete, and the other gamete will not get that chromosome at ... Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes ...
More precisely, the CDKL5 gene is located from base pair 18,443,724 to base pair 18,671,748 on the X chromosome. Cyclin- ... Human CDKL5 genome location and CDKL5 gene details page in the UCSC Genome Browser. CDKL5 protein, human at the US National ... The CDKL5 gene is located on the short (p) arm of the X chromosome at position 22. ... "Human PubMed Reference:". "Mouse PubMed Reference:". Kilstrup-Nielsen C, Rusconi L, La Montanara P, Ciceri D, Bergo A, Bedogni ...
An autosome is a chromosome that is not an allosome (a sex chromosome). The members of an autosome pair in a diploid cell have ... TDF functions by activating the SOX9 gene on chromosome 17, so mutations of the SOX9 gene can cause humans with a Y chromosome ... By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. (Unusual ... All human autosomes have been identified and mapped by extracting the chromosomes from a cell arrested in metaphase or ...
In humans, Robertsonian translocations generally occur in the five acrocentric chromosome pairs, namely 13, 14, 15, 21 and 22. ... or non-homologous chromosomes (i.e. two different chromosomes, not belonging to a homologous pair). A feature of chromosomes ... In humans, when a Robertsonian translocation joins the long arm of chromosome 21 with the long arm of chromosomes 14 or 15, the ... The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations. Annals of Human Genetics 1989;53: ...
Schäfer BW, Mattei MG (July 1993). "The human paired domain gene PAX7 (Hup1) maps to chromosome 1p35-1p36.2". Genomics. 17 (1 ... Paired box protein Pax-7 is a protein that in humans is encoded by the PAX7 gene. Pax-7 plays a role in neural crest ... Pilz AJ, Povey S, Gruss P, Abbott CM (March 1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... PAX7 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) PAX7 human gene location in the UCSC ...
Family with sequence similarity 167, member A is a protein in humans that is encoded by the FAM167A gene located on chromosome ... a total of 53,253 base pairs. The promoter spans from 11324145 to 11324476 on the negative strand, thereby the first basepair ... "SymAtlas Human tissue expression". BioGPS. "Tissue expression in house mouse". Sun F, Xu J, Wu Z, Li P, Chen H, Su J, You X, Li ... On chromosome 8, FAM167A is positioned between c8orf12 (anti-sense) and BLK (anti-sense). The exact locus of FAM167A is 8p23-22 ...
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 ... 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 ...
It is 2,948 base pairs long, and includes the first 17 exons. The second isoform, NM_001291030.1, is 10,362 base pairs long. It ... Chromosome 22 was chosen based on the results of the data collected from three clinical visits at the Framingham Heart Study. ... FAM227A is a protein that in humans is encoded by FAM227A gene. Current studies have determined the location of this gene to be ... FAM227A is found on chromosome 22 at the location 22q13.1. It is flanked by the gene LOC105373031 on the left and CBY1 on the ...
The human genome is the complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in ... Chromosome lengths were estimated by multiplying the number of base pairs by 0.34 nanometers, the distance between base pairs ... The total length of the human genome is over 3 billion base pairs. The genome is organized into 22 paired chromosomes, plus the ... The human genome was the first of all vertebrates to be completely sequenced. As of 2012, thousands of human genomes have been ...
... gene structure predicts for an independently expressed member of an ITIM/ITAM pair of molecules localized to human chromosome ... "The gene encoding the immunoregulatory signaling molecule CMRF-35A localized to human chromosome 17 in close proximity to other ... CMRF35-like molecule 6 (CLM-6) also known as CD300 antigen-like family member C (CD300c) is a protein that in humans is encoded ... "Entrez Gene: CD300C CD300c molecule". Human CD300C genome location and CD300C gene details page in the UCSC Genome Browser. ...
... human) at 22q13.31 on the minus strand from 44492570-44498125 nt on the GRCh38.p7 assembly of the human genome. Aliases for the ... RTL6 is made up of 2 exons and is encoded by 5556 base pairs of DNA . RTL6 is a retrotransposon GAG related gene. It is one of ... The gene is on Chromosome 22 ( ... RTL6 has an alternate start of transcription 140 base pairs ... "Human PubMed Reference:". "Mouse PubMed Reference:". "RTL6 retrotransposon Gag like 6 [Homo sapiens (human)] - Gene - NCBI". ...
"MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice". ... MutS protein homolog 4 is a protein that in humans is encoded by the MSH4 gene. The MSH4 and MSH5 proteins form a hetero- ... indicating that it is not needed for establishing the preceding stages of pairing and synapsis of homologous chromosomes. In an ... Yi W, Wu X, Lee TH, Doggett NA, Her C (Jul 2005). "Two variants of MutS homolog hMSH5: prevalence in humans and effects on ...
... constituting a total of 46 chromosomes. During reproduction, each parent contributes 23 chromosomes; 22 autosomal chromosomes ... A normal human karyotype includes 22 pairs of autosomal or non-sex chromosomes and one pair of sex chromosomes, ... Chromosome 19, within the region of D19S894 and D19S416 has been postulated as the locus for the abnormalities found in EEC ... This means that there is an abnormal gene on one of the autosomal (non-sex) chromosomes from either parent. Because the gene is ...
For a bacterium containing a single chromosome, a genome project will aim to map the sequence of that chromosome. For the human ... Even when every base pair of a genome sequence has been determined, there are still likely to be errors present because DNA ... see Human genome project Humans, Homo sapiens; see The Human Genome Project-Write Palaeo-Eskimo, an ancient-human Neanderthal ... For humans, this will allow us to better understand aspects of human genetic diversity. Many organisms have genome projects ...
In humans the nuclear genome is divided into 46 linear DNA molecules called chromosomes, including 22 homologous chromosome ... pairs and a pair of sex chromosomes. The mitochondrial genome is a circular DNA molecule distinct from the nuclear DNA. ... The DNA of a prokaryotic cell consists of a single chromosome that is in direct contact with the cytoplasm. The nuclear region ... It houses the cell's chromosomes, and is the place where almost all DNA replication and RNA synthesis (transcription) occur. ...
The NDUFB9 gene is located on the q arm of chromosome 8 in position 13.3 and is 10,884 base pairs long. The NDUFB9 protein ... "The human B22 subunit of the NADH-ubiquinone oxidoreductase maps to the region of chromosome 8 involved in branchio-oto-renal ... 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957-68. doi: ... NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 is an enzyme that in humans is encoded by the NDUFB9 gene. NADH ...
... that of the human genome, although the number of chromosomes (22) is comparable to that of humans (23). This makes it ... It remains among the smallest known vertebrate genomes; its number of base pairs is ~6% and the number of previously known ... Current estimates show a total of 392,376,244 base pairs, 1,138 known and 18,093 novel protein-coding genes, and 593 RNA genes ... After being initiated in 1989, it was the first vertebrate genome after the human genome to be made publicly available. ...
... from base pair 34,101,636 to base pair 34,114,748. Heme oxygenase-1 deficiency The ability of oxygenase 1 to catabolize free ... HMOX1 (heme oxygenase (decycling) 1) is a human gene that encodes for the enzyme heme oxygenase 1 (EC 1.14.99.3). Heme ... The HMOX gene is located on the long (q) arm of chromosome 22 at position 12.3, ... Exner M, Minar E, Wagner O, Schillinger M (2005). "The role of heme oxygenase-1 promoter polymorphisms in human disease". Free ...
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. ...
The human genome is made up of 3 billion base pairs How many genes does the Human Genome code for? Human Genome ... 1 Alu Human Polymorphism 2 How many chromosomes does each human cell have? -22 pairs of autosomal chromosome and 1 pair of sex ... Alu Human Polymorphism. How many chromosomes does each human cell have? -22 pairs of autosomal chromosome and 1 pair of sex ... Download ppt "Alu Human Polymorphism. How many chromosomes does each human cell have? -22 pairs of autosomal chromosome and 1 ...
DiGeorge syndrome is associated with microdeletions of chromosome 22q11 and is therefore likely to be caused by reduced dosage ... Chromosome Deletion* * Chromosomes, Human, Pair 22* * Cleft Palate / genetics* * Cognition Disorders / genetics* ... Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus Lancet. 1992 May 9;339(8802 ... DiGeorge syndrome is associated with microdeletions of chromosome 22q11 and is therefore likely to be caused by reduced dosage ...
We describe the isolation of human LH-2, a putative transcription factor containing two cysteine-rich regions (LIM domains) and ... Chromosome Mapping * Chromosomes, Human, Pair 22 * Chromosomes, Human, Pair 9* * Cricetinae * DNA / genetics ... Identification of a human LIM-Hox gene, hLH-2, aberrantly expressed in chronic myelogenous leukaemia and located on 9q33-34.1 ... The proximity of hLH-2 to the breakpoint on chromosome 9 raises the possibility of cis-activation by the t(9;22)(q34;q11) ...
22;4)(p22.3;q11.1;q31.1) in a infertile male with oligoastenoteratozoospermia (OAT). He was the second patient with complex ... Chromosome Banding. Chromosomes / ultrastructure*. Chromosomes, Human, Pair 1*. Chromosomes, Human, Pair 22*. Chromosomes, ... Human, Pair 4*. Cytogenetics. Humans. Infertility, Male / genetics*. Male. Oligospermia / genetics. Spermatogenesis. ... 6885076 - A deletion of heterochromatin only of the y chromosome in an azoospermic male.. 18953646 - Cytogenetic and y ...
... and has been localized by in situ hybridization to the long arm of chromosome 22. As demonstrated usi ... The human stromelysin 3 (STMY3) gene, a new member of the matrix metalloproteinase (MMP) gene family, may contribute to breast ... Chromosome Mapping. Chromosomes, Human, Pair 22*. Female. Humans. Hybrid Cells. Matrix Metalloproteinase 11. ... The human stromelysin 3 (STMY3) gene, a new member of the matrix metalloproteinase (MMP) gene family, may contribute to breast ...
Noun 1. nucleolar organizer - the particular part of a chromosome that is associated with a nucleolus after nuclear division ... chromosome - a threadlike strand of DNA in the cell nucleus that carries the genes in a linear order; "humans have 22 ... chromosome pairs plus two sex chromosomes". Want to thank TFD for its existence? Tell a friend about us, add a link to this ... Comparison of the chromosome banding pattern in the 2n = 56 cytotypes of nannospalax leucodon and N. xanthodon from Turkey ...
THE HUMAN GENOME. •___ genes. ___ chromosomes. ___ pairs. •1-22 = •23 = •~20,000 genes. •. •46 chromosomes. •. •23 pairs. •1-22 ... copy of a chromosome). •. _____ (__ copies of a chromosome). •. _______ (__ copies of a chromosome). ... Monosomies (1 copy of a chromosome). •. •Trisomies (3 copies of a chromosome). •. •Tetrasomies (4 copies of a chromosome). ... copies of a chromosome (or ___of a chromosome) inherited from the ___ parent. ___ copies are inherited from the other parent. • ...
If the same rate of degeneration continues, the Y chromosome has just 4.6 million years left. ... WHAT IS THE Y CHROMOSOME AND WHY IS IT DISAPPEARING?. The Y chromosome is one of two sex chromosomes found in humans - the ... rather than a pair ... But the human Y-chromosome is still one of the smallest in the ... The Y chromosome spans more than 59 million building blocks of DNA and represents almost 2 percent of the total DNA in cells. ...
Review: Human Chromosomes ? There are 46 chromosomes (23 homologous pairs) in each somatic cell ? 22 pairs of autosomes. During ... 14 Outline ? 14-1: Human Heredity Human Chromosomes Human Traits Human Genes From Gene to Molecule. They vied for power with ... Non-Disjunction in Sex ChromosomesNon-Disjunction in Sex Chromosomes ? Issues arise in homologous pair 23 (X or Y) ? Can be ... Karyotype A picture of the chromosomes of an individual or a species, including number, form, and size of the chromosomes. A ...
... www.geneticsdigest.com/how-many-chromosomes-do-humans-have/. A chromosome is an entire chain of DNA along with a group of ... Females have a pair of X chromosomes, males have an X and Y chromosome. ... A chromosome is a deoxyribonucleic acid (DNA) molecule with part or all of the genetic .... In addition to these, human cells ... A complete set of genetic information includes 23 pairs of chromosomes, which adds ... With too many or too few copies of a ...
do a crtl/f page text search on the word chromosome when you open the link. Humans have pairs of chromosomes, numbered 1...22 ... Chromosome #1 and #7 are where certain genes (alleles) live, and some of them are reported to increase the likelihood of ... Of course everything about being human will be influenced by genes at some level so the question as to whether addictions are ...
Human Apolipoprotein B Transgenic Mice Generated with 207- and 145-Kilobase Pair Bacterial Artificial Chromosomes. Evidence ... Human Apolipoprotein B Transgenic Mice Generated with 207- and 145-Kilobase Pair Bacterial Artificial Chromosomes. Evidence ... We reported previously that ~80-kilobase pair (kb) P1 bacteriophage clones spanning either the human or mouse apoB gene (clones ... To test this possibility, transgenic mice were generated with 145- and 207-kb bacterial artificial chromosomes (BACs) that ...
The chapters are numbered for the pairs of human chromosomes, one pair being the X and Y sex chromosomes, so the numbering goes ... The book devotes one chapter to each pair of human chromosomes. Since one (unnumbered) chapter is required to discuss the sex ... the chapters matching the 23 pairs of human chromosomes, and notes that Genome is the third of Ridleys books that "tries to ... The impact of stress on the human body is described starting with the creation of hormones by the CYP17 gene on chromosome 10. ...
Chromosomes, Human, Pair 22. *Dopamine (blood, metabolism, urine) *Female. *Gene Frequency. *Genetic Predisposition to Disease ... Twelve adults with 22q11DS with schizophrenia (SCZ+) and 22 adults with 22q11DS without schizophrenia (SCZ-) were genotyped for ...
The exceptions are sperm and eggs, which normally carry 23 chromosomes-one of each pair. The first 22 pairs of chromosomes in ... Smiths Recognizable Patterns of Human Malformation. 5th ed. Philadelphia: W.B. Saunders Company, 1997. ... Chromosomes are the microscopic structures inside cells that carry the genes. Each cell of the body contains 46 chromosomes in ... Dominant inheritance means that an error in only one gene of a pair is enough to produce symptoms of the disorder. In other ...
... 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 ... Section structure of Homologous chromosome: Homologous chromosomes are chromosomes which contain the same genes in the same ... What about the X chromosome and Y chromosome in male humans? By the definition they do not belong to any homologous set, since ...
"Hierarchical patterns of global human Y-chromosome diversity". Mol Biol Evol. 18 (7): 1189-203. doi:10.1093/oxfordjournals. ... Evolution & Human Behavior 24: 99-112. Full text. *Knight, C. 2008. Early human kinship was matrilineal. In N. J. Allen, H. ... Early human kinship was matrilineal. In N. J. Allen, H. Callan, R. Dunbar and W. James (eds.), Early Human Kinship. Oxford: ... contains fewer genes than an X chromosome because it is shorter and is one of his two sex chromosomes, the other being the X ...
Human cells have 23 pairs of chromosomes, which are visible under a standard light microscope.. Chromosomes. ... Missing a chromosome. Monosomy 18, for example, means that the perons has only one copy of chromosome #18 (has the normal ... the 23rd pair of chromosomes in humans. Sex chromosomes. Describes the microscopic appearance of the chromosomes.. Karyotype. ... Having an abnormal number of chromosomes. Aneuploid. ... Having an extra copy of a chromosome.. Trisomy. The percentage ...
Chromosomes, Human, Pair 22 / genetics * Cognition Disorders / complications * Cognition Disorders / psychology* * DiGeorge ... 11 Center for Human Genetics, KU Leuven, Leuven, Belgium.. *12 Department of Psychiatry and Psychology, Maastricht University, ... 3 Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of ... 10 Division of Human Genetics, The Childrens Hospital of Philadelphia, Philadelphia, Pennsylvania. ...
... contains 23 chromosomes in total. Humans have 22 chromosome pairs as well as two sex chromosomes, for a total of 46 chromosomes ... The human male gamete, also known as a sperm cell, ... How Many Chromosomes Do Humans Have?. A: Humans have 23 pairs ... How Many Pairs of Chromosomes Do Humans Have?. A: Humans typically have 23 pairs of chromosomes, resulting in a total of 46 ... How Many Chromosomes Are Shown in a Normal Human Karyotype?. A: A normal human karyotype typically contains 23 pairs of ...
A human being has 20,000 to 25,000 genes located on 46 chromosomes (23 pairs). These genes are known, collectively, as the ... two X sex chromosomes for females (XX) and an X and Y sex chromosome for males (XY). One member of each pair of chromosomes ... Karyotype of a human male. Prokaryotic chromosomes. The prokaryotes (Greek for before nucleus - including Eubacteria and ... Human beings have 46 chromosomes, consisting of 22 pairs of autosomes and a pair of sex chromosomes: ...
Fruit flies have four pairs of chromosomes in each individual cell that control characteristics such as eye color, wing ... How many pairs of chromosomes do humans have?. A: Humans typically have 23 pairs of chromosomes, resulting in a total of 46 ... How many chromosomes do humans have?. A: Humans have 23 pairs of chromosomes, giving each cell a total of 46. This includes 22 ... Do homologous pairs of chromosomes carry the same genes?. A: Homologous pairs of chromosomes carry the same genes. Although the ...
6A). TheBACE2 locus is near the end of the long arm of human chromosome 21 (q22.3) (Fig. 2), and thus, at least two chromosomal ... yet the cell has maintained the pairing of the newly replicated sister chromatids in anticipation of chromosome condensation. ... The first probe consisted of overlapping BAC clones encompassing theBACE1 locus on human chromosome 11 (Fig.2). To assess the ... Cultured human lymphocytes (line GM07038A) were received from the Human Genetics service of University Hospitals/Case Western ...
... chromosome, copy number variation (CNV), DNA, DNA methylation, DNA mutation, dominant, epigenetics, gene, gene expression. ... A chromosome contains a single, long piece of DNA with many different genes. Every human cell contains 23 pairs of chromosomes ... and one pair of sex chromosomes, which can be XX or XY. Each pair contains two chromosomes, one from each parent, which means ... Chromosome. DNA is packaged into small units called chromosomes. ... There are 22 pairs of numbered chromosomes, called autosomes, ...
Chromosomes are usually in pairs. Humans have 23 pairs of chromosomes.. A karyotype is the number and appearance of chromosomes ... In addition to autosomes, there are sex chromosomes, specifically: X and Y. So, humans have 23 pairs of chromosomes.. Autosomes ... Chromosome. Chromosomes. A chromosome is an organized structure of DNA and protein that is found in cells. It is a single piece ... Chromosome. DNA. An autosome is a chromosome that is not a sex chromosome. Deoxyribonucleic acid. DNA is a very long molecule ...
  • Figure 1: A representation of a condensed eukaryotic chromosome, as seen during cell division. (statemaster.com)
  • Direct repeats Global direct repeat Local direct simple repeats Local direct repeats Local direct repeats with spacer Inverted repeats Global inverted repeat Local inverted repeat Inverted repeat with spacer Palindromic repeat Mirror and everted repeats Eukaryotic chromosome fine structure Noncoding DNA Intergenic region de Koning, AP Jason, et al. (wikipedia.org)
  • Both prokaryotic and eukaryotic ribosomes can be broken down into two subunits (the S in 16S represents Svedberg units), nt= length in nucleotides of the respective rRNAs, for exemplary species Escherichia coli (prokaryote) and human (eukaryote): Note that the S units of the subunits (or the rRNAs) cannot simply be added because they represent measures of sedimentation rate rather than of mass. (wikipedia.org)
  • The binding affinities of all potential NF-κB sites on human chromosome 22, together with the effects of known single-nucleotide polymorphisms, are calculated to determine likely functional variants. (pnas.org)
  • The G1 is a pair of two non-synonymous single nucleotide polymorphisms (SNPs) in almost complete linkage disequilibrium. (wikipedia.org)
  • According to another study, when measured in a different solution, the DNA chain measured 22 to 26 ångströms wide (2.2 to 2.6 nanometres), and one nucleotide unit measured 3.3 Å (0.33 nm) long. (wikipedia.org)
  • The first selectivity filter occurs at the nucleotide flipping step of unusable base pairs that present lesions. (wikipedia.org)