Chromosome duplication. Medical search

Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.

An aberration in which an extra chromosome or a chromosomal segment is made.

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)

The process by which a DNA molecule is duplicated.

Any method used for determining the location of and relative distances between genes on a chromosome.

Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.

The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.

Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.

The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)

A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.

Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.

Low-copy (2-50) repetitive DNA elements that are highly homologous and range in size from 1000 to 400,000 base pairs.

Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.

A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.

Actual loss of portion of a chromosome.

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.

A specific pair GROUP C CHROMSOMES of the human chromosome classification.

A specific pair of GROUP C CHROMSOMES of the human chromosome classification.

The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.

A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.

Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.

A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.

A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.

The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.

A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.

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.

DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.

The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.

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)

Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.

A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.

A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.

Mapping of the KARYOTYPE of a cell.

A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.

A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)

The alignment of CHROMOSOMES at homologous sequences.

The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.

A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.

One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.

A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.

The relationships of groups of organisms as reflected by their genetic makeup.

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.

An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.

A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.

A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.

Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.

A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.

The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.

Two identical genes showing the same phenotypic action but localized in different regions of a chromosome or on different chromosomes. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)

The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.

A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.

The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.

Aberrant chromosomes with no ends, i.e., circular.

Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.

Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.

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.

A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.

The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.

The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.

Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.

The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.

A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females.

A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.

The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

Structures within the CELL NUCLEUS of insect cells containing DNA.

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.

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.

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.

The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).

The 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.

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.

Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).

The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.

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.

Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.

Structures which are contained in or part of CHROMOSOMES.

The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.

The possession of a third chromosome of any one type in an otherwise diploid cell.

Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.

The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.

The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.

A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).

The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.

The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.

Copies of DNA sequences which lie adjacent to each other in the same orientation (direct tandem repeats) or in the opposite direction to each other (INVERTED TANDEM REPEATS).

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).

The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.

The genetic complement of a plant (PLANTS) as represented in its DNA.

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.

Genes bearing close resemblance to known genes at different loci, but rendered non-functional by additions or deletions in structure that prevent normal transcription or translation. When lacking introns and containing a poly-A segment near the downstream end (as a result of reverse copying from processed nuclear RNA into double-stranded DNA), they are called processed genes.

Genotypic differences observed among individuals in a population.

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)

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.

A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.

The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.

The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."

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.

In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.

A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations.

The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.

The 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.

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.

Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)

The cell center, consisting of a pair of CENTRIOLES surrounded by a cloud of amorphous material called the pericentriolar region. During interphase, the centrosome nucleates microtubule outgrowth. The centrosome duplicates and, during mitosis, separates to form the two poles of the mitotic spindle (MITOTIC 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.

Self-replicating, short, fibrous, rod-shaped organelles. Each centriole is a short cylinder containing nine pairs of peripheral microtubules, arranged so as to form the wall of the cylinder.

The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.

A species of fruit fly much used in genetics because of the large size of its chromosomes.

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.

Animals having a vertebral column, members of the phylum Chordata, subphylum Craniata comprising mammals, birds, reptiles, amphibians, and fishes.

The presence of two or more genetic loci on the same chromosome. Extensions of this original definition refer to the similarity in content and organization between chromosomes, of different species for example.

The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.

The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.

The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.

A technique with which an unknown region of a chromosome can be explored. It is generally used to isolate a locus of interest for which no probe is available but that is known to be linked to a gene which has been identified and cloned. A fragment containing a known gene is selected and used as a probe to identify other overlapping fragments which contain the same gene. The nucleotide sequences of these fragments can then be characterized. This process continues for the length of the chromosome.

Nucleoproteins, which in contrast to HISTONES, are acid insoluble. They are involved in chromosomal functions; e.g. they bind selectively to DNA, stimulate transcription resulting in tissue-specific RNA synthesis and undergo specific changes in response to various hormones or phytomitogens.

The 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.

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.

The functional hereditary units of PLANTS.

Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.

The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.

An individual having different alleles at one or more loci regarding a specific character.

Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.

An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.

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.

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).

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.

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.

Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.

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.

Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.

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.

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)

Congenital structural abnormalities of the DIGESTIVE SYSTEM.

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.

Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.

Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.

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.

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.

Genetic loci associated with a QUANTITATIVE TRAIT.

The sequential location of genes on a chromosome.

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.

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.

The systematic study of the complete DNA sequences (GENOME) of organisms.

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)

Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.

A sequence of amino acids in a polypeptide or of nucleotides in DNA or RNA that is similar across multiple species. A known set of conserved sequences is represented by a CONSENSUS SEQUENCE. AMINO ACID MOTIFS are often composed of conserved sequences.

Deletion of sequences of nucleic acids from the genetic material of an individual.

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.

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.

Deoxyribonucleic acid that makes up the genetic material of bacteria.

Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.

The functional hereditary units of INSECTS.

A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)

A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.

Established cell cultures that have the potential to propagate indefinitely.

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.

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.

Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.

Deoxyribonucleic acid that makes up the genetic material of plants.

The complete gene complement contained in a set of chromosomes in a fungus.

A characteristic symptom complex.

The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.

Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.

The degree of replication of the chromosome set in the karyotype.

The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.

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.

Genes that are located on the X CHROMOSOME.

Annual cereal grass of the family POACEAE and its edible starchy grain, rice, which is the staple food of roughly one-half of the world's population.

Short tracts of DNA sequence that are used as landmarks in GENOME mapping. In most instances, 200 to 500 base pairs of sequence define a Sequence Tagged Site (STS) that is operationally unique in the human genome (i.e., can be specifically detected by the polymerase chain reaction in the presence of all other genomic sequences). The overwhelming advantage of STSs over mapping landmarks defined in other ways is that the means of testing for the presence of a particular STS can be completely described as information in a database.

The 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).

Biochemical identification of mutational changes in a nucleotide sequence.

The functional hereditary units of BACTERIA.

Genes that influence the PHENOTYPE only in the homozygous state.

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.

A receptor tyrosine kinase that is involved in HEMATOPOIESIS. It is closely related to FMS PROTO-ONCOGENE PROTEIN and is commonly mutated in acute MYELOID LEUKEMIA.

Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.

The functional hereditary units of FUNGI.

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.

An individual in which both alleles at a given locus are identical.

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.

A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)

Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.

Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.

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)

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.

Male germ cells derived from SPERMATOGONIA. The euploid primary spermatocytes undergo MEIOSIS and give rise to the haploid secondary spermatocytes which in turn give rise to SPERMATIDS.

The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.

The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.

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)

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.)

Genomic profile of copy number variants on the short arm of human chromosome 8. (1/99)

(+info)

A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications. (2/99)

(+info)

Array-CGH and quantitative PCR genetic analysis in a case with bilateral hypoplasia of pulmonary arteries and lungs and simultaneous unilateral renal agenesis. (3/99)

We describe the clinical course and have characterised anatomically and genetically a unique case of a newborn with bilateral hypoplasia of pulmonary arteries, consecutive extremely hypoplastic lung tissue and associated unilateral renal agenesis. Intrauterine oxygenation by the placenta seemed to have allowed normotrophic body maturity but immediately after delivery, in the third trimester, progressive hypoxemia developed and the newborn succumbed to acute respiratory failure. Genetic analysis by array-based comparative genomic hybridisation and quantitative PCR revealed duplication of 1p21, which, however, might not be the disease causing aberration. This case might represent an extreme form of previously reported, rare cases with simultaneous dysorganogenesis of lungs and kidneys. (+info)

MIRA-SNuPE, a quantitative, multiplex method for measuring allele-specific DNA methylation. (4/99)

5-methyl-C (5mC) and 5-hydroxymethyl-C (5hmC) are epigenetic marks with well known and putative roles in gene regulation, respectively. These two DNA covalent modifications cannot be distinguished by bisulfite sequencing or restriction digestion, the standard methods of 5mC detection. The methylated CpG island recovery assay (MIRA), however, specifically detects 5mC but not 5hmC. We further developed MIRA for the analysis of allele-specific CpG methylation at differentially methylated regions (DMRs) of imprinted genes. MIRA specifically distinguished between the parental alleles by capturing the paternally methylated H19/Igf2 DMR and maternally methylated KvDMR1 in mouse embryo fibroblasts (MEFs) carrying paternal and maternal duplication of mouse distal Chr7, respectively. MIRA in combination with multiplex single nucleotide primer extension (SNuPE) assays specifically captured the methylated parental allele from normal cells at a set of maternally and paternally methylated DMRs. The assay correctly recognized aberrant biallelic methylation in a case of loss-of imprinting. The MIRA-SNuPE assays revealed that placenta exhibited less DNA methylation bias at DMRs compared to yolk sac, amnion, brain, heart, kidney, liver and muscle. This method should be useful for the analysis of allele-specific methylation events related to genomic imprinting, X chromosome inactivation and for verifying and screening haplotype-associated methylation differences in the human population. (+info)

Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia. (5/99)

(+info)

Advanced age increases chromosome structural abnormalities in human spermatozoa. (6/99)

(+info)

Phenotypic manifestations of copy number variation in chromosome 16p13.11. (7/99)

(+info)

Visualization of fine-scale genomic structure by oligonucleotide-based high-resolution FISH. (8/99)

(+info)

The ORC is a six subunit complex that binds DNA and provides a site on the chromosome where additional replication factors can ... Diffley, J.F. (2008). "Regulation of Early Events in Chromosome Replication". Curr. Biol. 14 (18): R778-R786. doi:10.1016/j.cub ... Replication is initiated at multiple origins of replication on multiple chromosomes simultaneously so that the duration of S ... Pflumm, M.F.; Bochtan, M.R. (2001). "Orc mutants arrest in metaphase with abnormally condensed chromosomes". Development. 128 ( ...

https://en.wikipedia.org/wiki/Control_of_chromosome_duplication

Chromosome 2q31.1 duplication syndrome is a protein that in humans is encoded by the DUP2Q31.1 gene. "Human PubMed Reference ... "Entrez Gene: Chromosome 2q31.1 duplication syndrome". Retrieved 2016-07-25. Sandholm N, McKnight AJ, Salem RM, Brennan EP, ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome, All stub articles, Human ... "Chromosome 2q31.1 associates with ESRD in women with type 1 diabetes". J. Am. Soc. Nephrol. 24 (10): 1537-43. doi:10.1681/ASN. ...

https://en.wikipedia.org/wiki/Chromosome_2q31.1_duplication_syndrome_gene

... of their sequence can be traced to duplications occurring from other chromosomes. The number of segmental duplications in ... The segmental duplications are primarily consistent between the two genomes with the exception of chromosomes 1, 11, and 14 ... This is the only region which does not show any homologies to segmental duplication of other chromosomes with more than 95% ... 2005). Interchromosomal segmental duplications of the pericentromeric region on the human Y chromosome. Genome Research,15(2), ...

https://en.wikipedia.org/wiki/Segmental_duplication_on_the_human_Y_chromosome

Chromosome 15q duplication is an extremely rare genetic disorder in which there is an excess copy of a segment of DNA found on ... "Chromosome 15q duplication , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov ... Chromosome 15q partial deletion "Chromosome 15, Distal Trisomy 15q". NORD (National Organization for Rare Disorders). Retrieved ... the long ("q") arm of human chromosome 15. As a result, affected cells contain a total of 3 copies of the duplicated bases, ...

https://en.wikipedia.org/wiki/Chromosome_15q_trisomy

Bell SP, Labib K (July 2016). "Chromosome Duplication in Saccharomyces cerevisiae". Genetics. 203 (3): 1027-1067. doi:10.1534/ ... Eukaryotes typically have multiple origins of replication; at least one per chromosome. Saccharomyces cerevisiae (S. cerevisiae ... The MCM heterohexamer arguably arose via MCM gene duplication events and subsequent divergent evolution. The pre-RC of ...

https://en.wikipedia.org/wiki/Pre-replication_complex

Abbreviations include dup for duplications of parts of a chromosome. For example, dup(17p12) causes Charcot-Marie-Tooth disease ... The gene duplication rate in C. elegans is on the order of 10−7 duplications/gene/generation, that is, in a population of 10 ... Ohno, S. (1970). Evolution by gene duplication. Springer-Verlag. ISBN 978-0-04-575015-3. Ohno, S. (1967). Sex Chromosomes and ... Major genome duplication events can be quite common. It is believed that the entire yeast genome underwent duplication about ...

https://en.wikipedia.org/wiki/Gene_duplication

Chromosome 17q12 duplication syndrome is a protein in humans that is encoded by the DUP17Q12 gene. "Human PubMed Reference:". ... "Entrez Gene: Chromosome 17q12 duplication syndrome". Retrieved 2013-02-16. v t e (Articles with short description, Short ... description matches Wikidata, Genes on human chromosome, Genes on human chromosome 17, All stub articles, Human chromosome 17 ...

https://en.wikipedia.org/wiki/DUP17Q12

brachyantherum and followed by duplication of chromosome. Polyploidization may lead to speciation because the reproductive ... It was hypothesized that the novel genes arose due to the gene duplication during the early stage of the divergence of the ...

https://en.wikipedia.org/wiki/Hordeum_brachyantherum

Thomas, P. (1997). "The phenotypic manifestations of chromosome 17p11.2 duplication". Brain. 120 (3): 465-478. doi:10.1093/ ... "Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome ... The Roussy-Lévy syndrome has been associated with two mutations: a duplication of the PMP22 gene that carries the instructions ... study in French-Canadian population with Charcot-Marie-Tooth disease type 1A associated with 17p11.2 duplication". The Canadian ...

https://en.wikipedia.org/wiki/Roussy–Lévy_syndrome

Many of these genes are found on the short 'p' arm of the chromosome, and duplications at Xp11.2 are associated with the ... "OMIM Entry - # 300705 - CHROMOSOME Xp11.22 DUPLICATION SYNDROME". omim.org. Retrieved 2018-03-09. "Microduplication Xp11.22- ... Females with one affected X chromosome and one normal X chromosome tend to have milder symptoms. Unlike many other types of ... These include: Coffin-Lowry syndrome DDX3X syndrome MASA syndrome MECP2 duplication syndrome Mental retardation and ...

https://en.wikipedia.org/wiki/X-linked_intellectual_disability

This condition is caused by a 1 to 3.8 mb duplication of genetic material on the long arm of chromosome 2, more specifically, a ... "Clinical Synopsis - #613681 - CHROMOSOME 2q31.1 DUPLICATION SYNDROME - OMIM". www.omim.org. Retrieved 2022-08-04. Cho, Tae-Joon ... "Entry - #613681 - CHROMOSOME 2q31.1 DUPLICATION SYNDROME - OMIM". www.omim.org. Retrieved 2022-08-04. (Orphaned articles from ... "Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus". European Journal of Human Genetics: ...

https://en.wikipedia.org/wiki/Syndactyly-nystagmus_syndrome_due_to_2q31.1_microduplication

"OMIM Entry - # 300705 - CHROMOSOME Xp11.22 DUPLICATION SYNDROME". omim.org. Retrieved 2019-04-16. "Specific Genetic Disorders ... Whole chromosome extra, missing, or both (see chromosome abnormality) T - Trinucleotide repeat disorders: gene is extended in ... P - Point mutation, or any insertion/deletion entirely inside one gene D - Deletion of a gene or genes Dup - Duplication of a ... The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the ...

https://en.wikipedia.org/wiki/List_of_genetic_disorders

"An anthropoid-specific segmental duplication on human chromosome 1q22". Genomics. 88 (2): 143-51. doi:10.1016/j.ygeno.2006.02. ... The MSTO1 gene is 5134 base pairs (located in chromosome 1) and the MSTO1 protein is 570 aminoacids in length. It is located in ... v t e (Genes on human chromosome 1, All stub articles, Protein stubs). ...

https://en.wikipedia.org/wiki/MSTO1

"An anthropoid-specific segmental duplication on human chromosome 1q22". Genomics. 88 (2): 143-51. doi:10.1016/j.ygeno.2006.02. ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 1, All stub articles, ... May 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. Bibcode:2006Natur. ...

https://en.wikipedia.org/wiki/GON4L

December 2004). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. Bibcode: ... C16orf96, or chromosome 16 open reading frame 96, is a protein in humans that is encoded by C16orf96 that is found on the 16th ... chromosome. In Homo sapiens, the protein is 1141 amino acids in length The molecular weight of the processed C16orf96 protein ...

https://en.wikipedia.org/wiki/C16orf96

Lewis, D.; Casselton, L. A. (1975). "Missense suppression in Coprinus lagopus associated with a chromosome duplication". ... 14 June 2010). "Insights into evolution of multicellular fungi from the assembled chromosomes of the mushroom Coprinopsis ...

https://en.wikipedia.org/wiki/Lorna_Casselton

... depletions and duplications of parts of a gene, larger portion of a chromosome, or even an entire arm of a chromosome; ... translocations, deletions, and duplications of entire chromosomes; and increases and decreases in the expression of intact ...

https://en.wikipedia.org/wiki/Plasma_cell_leukemia

2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. Bibcode:2004Natur.432.. ... 2001). "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16". Hum. ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 16). ...

https://en.wikipedia.org/wiki/MAPK8IP3

This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause ... 2006). "Analysis of the DNA sequence and duplication history of human chromosome 15". Nature. 440 (7084): 671-5. doi:10.1038/ ... 2000). "Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132 ... maps to human chromosome 15q21-q22". J Med Genet. 34 (12): 1015-7. doi:10.1136/jmg.34.12.1015. PMC 1051155. PMID 9429146. " ...

https://en.wikipedia.org/wiki/STRC

April 2008). "Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome". American Journal of Medical ...

https://en.wikipedia.org/wiki/Noonan_syndrome

https://en.wikipedia.org/wiki/PHLPPL

1999). "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q". Genomics. 60 (3): ... 2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. Bibcode:2004Natur.432.. ... v t e (Articles with short description, Short description is different from Wikidata, Genes on human chromosome 16, ... 1996). "Assignment of the human ATBF1 transcription factor gene to chromosome 16q22.3-q23.1". Genomics. 29 (2): 552-3. doi: ...

https://en.wikipedia.org/wiki/ATBF1

December 2004). "The sequence and analysis of duplication-rich human chromosome 16" (PDF). Nature. 432 (7020): 988-94. Bibcode: ... The human gene TMEM8A is found on chromosome 16 at the band 16p13.3. The span of this gene on chromosome 16 spans from base ... Genes on human chromosome, Articles to be expanded from June 2013, All articles to be expanded, Articles with empty sections ... This gene is found on the minus strand of the chromosome. There are no known isoforms. TMEM8A is also known as Transmembrane ...

https://en.wikipedia.org/wiki/TMEM8A

2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. Bibcode:2004Natur.432.. ... 2001). "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16". Hum. ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 16, EF-hand-containing ... proteins, All stub articles, Human chromosome 16 gene stubs). ...

https://en.wikipedia.org/wiki/RAB11FIP3

2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. Bibcode:2004Natur.432.. ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 16, All stub articles, ... "cDNA cloning of a human RAB26-related gene encoding a Ras-like GTP-binding protein on chromosome 16p13.3 region". J Hum Genet. ...

https://en.wikipedia.org/wiki/RAB26

2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-994. Bibcode:2004Natur.432 ... "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q". Genomics. 60 (3): 295-308. ... Genes on human chromosome 16, All stub articles, Human chromosome 16 gene stubs). ...

https://en.wikipedia.org/wiki/KIAA0430

2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. Bibcode:2004Natur.432.. ... 2001). "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16". Hum. ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 16, Wikipedia articles ...

https://en.wikipedia.org/wiki/Calcium_channel,_voltage-dependent,_T_type,_alpha_1H_subunit

His group use budding yeast to study chromosome duplication and segregation. By understanding the processes that occur during ... Moser, Sandra C.; Swedlow, Jason R. (2011). "How to be a mitotic chromosome". Chromosome Research. 19 (3): 307-19. doi:10.1007/ ... The centre is studying many aspects of the cell cycle, including the way in which chromosomes replicate and separate during ... The driving force behind this process are strands known as microtubules, which pull the chromosomes apart. His work looks at ...

https://en.wikipedia.org/wiki/Centre_for_Gene_Regulation_and_Expression

2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. Bibcode:2004Natur.432.. ... 2001). "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16". Hum. ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 16, All stub articles, ...

https://en.wikipedia.org/wiki/UNKL

2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. Bibcode:2004Natur.432.. ... 2001). "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16". Hum. ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 16, All stub articles, ...

https://en.wikipedia.org/wiki/PIGQ

McLaughlin KJ, Szabó P, Haegel H, Mann JR (January 1996). "Mouse embryos with paternal duplication of an imprinted chromosome 7 ... on mouse chromosome 17 and KCNQ1OT1 on human chromosome 11p15.5, have been shown to be essential for the imprinting of genes in ... but do depend on which parent the chromosome originated from. This group of epigenetic changes that depend on the chromosome's ... Imprinting of whole chromosomes has been reported in mealybugs (Genus: Pseudococcus) and a fungus gnat (Sciara). It has also ...

https://en.wikipedia.org/wiki/Genomic_imprinting

Generally, such gene duplication can lead to functional specification which seems to be the case of bovine GNLYs because of two ... It is part of the saponin-like protein family, and its gene is found on the 2nd chromosome in humans. It is distinguished by ... GNLY gene is located on human chromosome 2 and has 5 exons, which code for a 15 kDa protein. The path to transcription has not ... Articles lacking in-text citations from June 2019, All articles lacking in-text citations, Genes on human chromosome 2). ...

https://en.wikipedia.org/wiki/GNLY

Ohno S (1970). Evolution by Gene Duplication. New York: Springer-Verlag. ISBN 0-04-575015-7. Hardie DC, Gregory TR, Hebert PD ( ... I. DNA-content and chromosome sets in various species of Cyprinidae". Humangenetik. 7 (3): 240-244. doi:10.1007/BF00273173. ... the nucleus will be more prone to a selection in favor for the deletion compared to the duplication. From the economic way of ... probably as a result of its inclusion in Susumu Ohno's influential book Evolution by Gene Duplication, published in 1970. With ...

https://en.wikipedia.org/wiki/Genome_size

Avramopoulos D, Wang R, Valle D, Fallin MD, Bassett SS (April 2007). "A novel gene derived from a segmental duplication shows ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 10, All stub articles, ... May 2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375-81. Bibcode:2004Natur. ...

https://en.wikipedia.org/wiki/ASAH2B

Chromosome 22 Chromosome 20 ring Chromosome 20, deletion 20p Chromosome 20, duplication 20p Chromosome 20, trisomy Chromosome ... Chromosome 15 Chromosome 13 duplication Chromosome 13 ring Chromosome 13, partial monosomy 13q Chromosome 13p duplication ... trisomy 18q Chromosome 18, trisomy Chromosome 19 ring Chromosome 19, trisomy 19q Chromosome 1q, duplication 1q12 q21 Chromosome ... trisomy 8p Chromosome 8, trisomy 8q Chromosome 8, trisomy Chromosome 9 inversion or duplication Chromosome 9 Ring Chromosome 9 ...

https://en.wikipedia.org/wiki/List_of_diseases_(C)

... and CRF2-4 genes cluster on human Chromosome 21 and mouse Chromosome 16". Mammalian Genome. 4 (6): 338-342. doi:10.1007/ ... De novo heterozygous 1-base point duplication in exon 3 and 1-base point deletion in exon 4 of the SON gene resulted in a ... "The SON gene encodes a conserved DNA binding protein mapping to human chromosome 21". Annals of Human Genetics. 58 (1): 25-34. ...

https://en.wikipedia.org/wiki/ZTTK_syndrome

... , Chromosomes and Cancer. Vol. 15. Miami Beach, FL: University of Miami School of Medicine. Alter O, Golub GH ( ... These events include the duplication of its DNA (DNA replication) and some of its organelles, and subsequently the partitioning ... In this checkpoint, the cell checks to ensure that the spindle has formed and that all of the chromosomes are aligned at the ... Thus, during this phase, the amount of DNA in the cell has doubled, though the ploidy and number of chromosomes are unchanged. ...

https://en.wikipedia.org/wiki/Cell_cycle

In humans, the GAS gene is located on the long arm of the seventeenth chromosome (17q21). Gastrin is a linear peptide hormone ... evidence for evolution of gastrin by gene duplication". Proceedings of the National Academy of Sciences of the United States of ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 17, Protein pages needing a ... "The genes for human gastrin and cholecystokinin are located on different chromosomes". Human Genetics. 73 (1): 77-80. doi: ...

https://en.wikipedia.org/wiki/Gastrin

... which is located on chromosome 16. The duplication appears to have appeared after the MRCA of humans and apes. This gene has ... It is located on Chromosome 17 at 18,684,582-18,710,026, and the most common mRNA has 7 exons. This gene encode a protein of ... The gene is found on chromosome 17 on the cytogenetic band 17p11.2. This gene has two paralog in the human genome, LOC201158, ... which is located on chromosome 17 at 17p12, and TVP23A, ...

https://en.wikipedia.org/wiki/FAM18B1

The cause of M2DS is a duplication of the MECP2 or Methyl CpG binding protein 2 gene located on the X chromosome (Xq28). The ... "MECP2 Duplication Syndrome". Reference, Genetics Home. "MECP2 duplication syndrome". Genetics Home Reference. "Van Wright ... Chromosome instability syndromes, Autosomal duplications, Disorders causing seizures). ... MECP2 duplication syndrome (M2DS) is a rare disease that is characterized by severe intellectual disability and impaired motor ...

https://en.wikipedia.org/wiki/MECP2_duplication_syndrome

Delusion of fetal duplication in a Capgras patient. Canadian Journal of Psychiatry 36: 46-47. Jacobs B (1943) Aetiological ... genome-wide significant evidence for linkage to chromosome 16. American Journal of Psychiatry 164: 1099-1104. Lewis K J S, ...

https://en.wikipedia.org/wiki/Postpartum_psychosis

... gene duplication and loss between the two species differs by 6.4%. There are also differences in the genetic networks and ... chromosome structure that make it difficult to quantify the relative change. King, Mary-Claire; Wilson, A.C. (1975). "Evolution ...

https://en.wikipedia.org/wiki/The_Myth_of_the_One_Percent

The duplication involved in PTLS is usually large enough to be detected through G-banding alone, though there is a high false ... In mice of the subfamily Murinae, a 32-34cM region of chromosome 11 is syntenic to 17p11.2, meaning that they contain the same ... Chromosome nomenclature Low copy repeats Potocki, Lorraine; Bi, Weimin; Treadwell-Deering, Diane; Carvalho, Claudia M.B.; ... Both appear to involve a 1.3-3.7Mb chromosome section in 17p11.2 that includes the retinoic acid inducible 1 (RAI1) gene. Other ...

https://en.wikipedia.org/wiki/Potocki–Lupski_syndrome

v t e (Genes on human chromosome 13, Collagens, All stub articles, Human chromosome 13 gene stubs). ... Myers JC, Howard PS, Jelen AM, Dion AS, Macarak EJ (Aug 1987). "Duplication of type IV collagen COOH-terminal repeats and ... chains map to the distal long arm of chromosome 13". Proc Natl Acad Sci U S A. 84 (2): 512-6. doi:10.1073/pnas.84.2.512. PMC ...

https://en.wikipedia.org/wiki/Collagen,_type_IV,_alpha_2

v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 10, All stub articles, ... 2007). "A novel gene derived from a segmental duplication shows perturbed expression in Alzheimer's disease". Neurogenetics. 8 ... 2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375-81. Bibcode:2004Natur.429.. ...

https://en.wikipedia.org/wiki/ASAH2

This duplication is the fourth of its kind to happen in the evolutionary lineage of the salmonids, with two having occurred ... Ito, Daisuke; Fujiwara, Atushi; Abe, Syuiti (2006). "Hybrid Inviability and Chromosome Abnormality in Salmonid Fish". The ... This divergence was marked by a whole-genome duplication event in the ancestral salmonid, where the diploid ancestor became ... This more precise dating and examination of the salmonid whole-genome duplication event has allowed more speculation on the ...

https://en.wikipedia.org/wiki/Salmonidae

For example, probes may be designed to target various regions of chromosome 21 of a human cell. The signal strengths of the ... Yau SC, Bobrow M, Mathew CG, Abbs SJ (1996). "Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker ... Identification of deletions or duplications can indicate pathogenic mutations, thus MLPA is an important diagnostic tool used ... detection of duplications and deletions in human cancer predisposition genes such as BRCA1, BRCA2, hMLH1 and hMSH2 and ...

https://en.wikipedia.org/wiki/Multiplex_ligation-dependent_probe_amplification

... in chromosome 15q11.2 Deletion in chromosome 8p23.2 Deletion in chromosome 17p13.2 Duplication in chromosome 5q14.1 Duplication ... Deletion in chromosome 16p11.2 Deletion in chromosome 5q35.3 Deletion in chromosome 5p13.1 Deletion in chromosome 22q11.2 ... Of all patients with PAVSD, around 25-32% of them have a microdeletion of the 22q11.2 chromosome. Without treatment, it is a ... in chromosome 10p13 A 1998 study done in Britain revealed that children with a mother who had a congenital heart defect ( ...

https://en.wikipedia.org/wiki/Pulmonary_atresia_with_ventricular_septal_defect

Since each centrosome has a K fiber connecting to each pair of chromosomes, the chromosomes become tethered in the middle of ... Hinchcliffe EH, Sluder G (May 2001). ""It takes two to tango": understanding how centrosome duplication is regulated throughout ... For example, +TIPs have been observed to participate in the interactions of microtubules with chromosomes during mitosis. The ... As the K fibers shorten the pair chromosomes are pulled apart right before cytokinesis. Previously, some researchers believed ...

https://en.wikipedia.org/wiki/Microtubule

... have similar chromosomes but with increasing distance chromosomes tend to break and fuse and thus result in mosaic chromosomes ... FISH in a parallel manner with the comparison of the hybridization strength to recall any major disruptions in the duplication ... FISH can be used to study the evolution of chromosomes. Species that are related have similar chromosomes. This homology can be ... Probes that hybridize along an entire chromosome are used to count the number of a certain chromosome, show translocations, or ...

https://en.wikipedia.org/wiki/Fluorescence_in_situ_hybridization

February 1994). "Olfactory receptor gene cluster on human chromosome 17: possible duplication of an ancestral receptor ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 17, Wikipedia articles ...

https://en.wikipedia.org/wiki/OR1G1

... of an SRY negative type of XX male sex reversal that resulted from a duplication of the SOX3 gene found on the X chromosome. ... In the final chapter of the book, Moalem argues why sex chromosomes matter in medicine as he calls for a long-overdue ... 2007). "Mammalian sex-Origin and evolution of the Y chromosome and SRY". Seminars in Cell and Developmental Biology. 18 (3): ... "The female of the species is more healthy than the male Physician Sharon Moalem on the role our sex chromosomes play in ...

https://en.wikipedia.org/wiki/Sharon_Moalem

Telomeres protect the end of the chromosome from DNA damage or from fusion with neighbouring chromosomes. The fruit fly ... thus avoiding cell death as long as the conditions for their duplication are met. Many cancer cells are considered 'immortal' ... Exposed chromosome ends are interpreted as double-stranded breaks (DSB) in DNA; such damage is usually repaired by reattaching ... Cri du chat syndrome (CdCS) is a complex disorder involving the loss of the distal portion of the short arm of chromosome 5. ...

https://en.wikipedia.org/wiki/Telomerase

... duplications, inversions, translocations), aneuploidy (i.e. increases or decreases in the number of chromosomes), and the ...

https://en.wikipedia.org/wiki/Primary_effusion_lymphoma

"Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q". Genomics. 60 (3): 295-308. ... v t e (Genes on human chromosome 2, All stub articles, Human chromosome 2 gene stubs). ...

https://en.wikipedia.org/wiki/CIAO1

Sutcliffe JS, Han MK, Amin T, Kesterson RA, Nurmi EL (2003). "Partial duplication of the APBA2 gene in chromosome 15q13 ... v t e (Genes on human chromosome 15, All stub articles, Human chromosome 15 gene stubs). ...

https://en.wikipedia.org/wiki/APBA2

... whether there is any rearrangement of the chromosomes, and also whether there are any large deletions or duplications. This ... Chromosome analysis, also known as karyotyping refers to testing that assesses whether the expected number of chromosomes are ... Deletion/duplication testing is a type of testing designed to detect larger areas of the genetic code that are missing or extra ... Prenatal testing is diagnostic testing of a fetus before birth to detect abnormalities in the chromosomes or genes. Samples for ...

https://en.wikipedia.org/wiki/Elective_genetic_and_genomic_testing

"The gene encoding the human corticostatin HP-4 precursor contains a recent 86-base duplication and is located on chromosome 8 ... Several human alpha defensin genes including HNP4 are clustered on chromosome 8. DEFA4 differs from other defensin genes by an ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 8, Defensins, All stub ... extra 83-base segment that is apparently the result of a recent duplication within the coding region. HNP4 inhibits ...

https://en.wikipedia.org/wiki/DEFA4

The duplication of APBA2 sequences in this region adds to a complex picture of different low copy repeats present across this ... Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures BMC Genomics. 2003 Apr 29;4(1):15. ... Conclusion: The duplication of APBA2 sequences in this region adds to a complex picture of different low copy repeats present ... Background: Chromosomal abnormalities affecting human chromosome 15q11-q13 underlie multiple genomic disorders caused by ...

https://pubmed.ncbi.nlm.nih.gov/12720574/?dopt=Abstract

15q11q13 Duplications My Chromosome Story. WEBPRINT. Make a donation. With your donations we can continue to produce our guides ... Rare Chromosome Disorder Support Group. Registered charity no. 1110661 Designed by Caravan Clinical photography provided by St ... We now support 30,000 people with rare chromosome & gene disorders. Ever-growing numbers of families need our help, across the ... Sharing for #CarersRightsDay in support of all carers, including those caring for people with rare chromosome & gene disorders ...

https://rarechromo.org/guide/15q11q13-duplications-my-chromosome-story/

Find symptoms and other information about Chromosome 19p duplication. ...

https://rarediseases.info.nih.gov/diseases/10834/chromosome-19p-duplication/

Partial duplication of the short arm of chromosome 2 (dup(2)(p13----p21) associated with mental retardation and an Aarskog-like ... Abnormalities, MultipleChromosome AberrationsChromosome DisordersChromosomes, Human, Pair 2CryptorchidismFaceHumansInfant, ... Partial duplication of the short arm of chromosome 2 (dup(2)(p13----p21) associated with mental retardation and an Aarskog-like ... "Partial Duplication of the Short Arm of Chromosome 2 (dup(2)(p13----p21) Associated With Mental Retardation and an Aarskog-like ...

https://www.unboundmedicine.com/medline/citation/2573314/Partial_duplication_of_the_short_arm_of_chromosome_2__dup_2__p13____p21__associated_with_mental_retardation_and_an_Aarskog_like_phenotype_

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French ... Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French ... A duplication within chromosome 17p11.2, cosegregating with the disease, has recently been reported in several CMT1a families. ... Duplications were found in all families including loci D17S61 (EW401), D17S122 (VAW409R3a and RM11-GT), and D17S125 (VAW412R3 ...

https://jmg.bmj.com/content/29/11/807

17q12 duplication is a chromosomal change in which a small piece of chromosome 17 is copied ( duplicated ) abnormally in each ... at position q12 on chromosome 17. This duplication affects one of the two copies of chromosome 17 in each cell. ... 17q12 duplication is a chromosomal change in which a small piece of chromosome 17 is copied (duplicated. ) abnormally in each ... The duplication occurs on the long (q) arm of the chromosome at a position designated q12. ...

https://medlineplus.gov/genetics/condition/17q12-duplication/

Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material ... located on the long arm (q) of chromosome 15 is present in each cell. ...

https://storymd.com/journal/6wxdl4rtzm-chromosome-15q-duplication

Cite this: Autism Spectrum Disorder, Klinefelter Syndrome, and Chromosome 3p21.31 Duplication: A Case Report - Medscape - Dec ... Reader Comments on: Autism Spectrum Disorder, Klinefelter Syndrome, and Chromosome 3p21.31 Duplication: A Case Report See ... Journal Article Autism Spectrum Disorder, Klinefelter Syndrome, and Chromosome 3p21.31 Duplication: A Case Report ... Autism Spectrum Disorder, Klinefelter Syndrome, and Chromosome 3p21.31 Duplication: A Case Report. ...

http://www.medscape.com/viewarticle/566753

Chromosome. 22q duplication. is a chromosome abnormality. that occurs when there is an extra copy of genetic material. on the ... Chromosome testing of both parents can provide more information on whether or not the duplication was inherited. . In most ... You can contact GARD if you have questions about a specific duplication on chromosome 22. To learn more about chromosomal ... Genetics Home Reference (GHR) contains information on Chromosome 22q duplication. This website is maintained by the National ...

https://www.rareophthalmologynews.com/rarediseases/chromosome-22q-duplication/

Chromosome. 12p duplication. is a chromosome abnormality. that occurs when there is an extra copy of genetic material. on the ... Genetics Home Reference (GHR) contains information on Chromosome 12p duplication. This website is maintained by the National ... PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 12p duplication. Click ... Features that often occur in people with chromosome 12p duplication include macrocephaly (unusually large head), abnormal ...

https://www.rareginews.com/rarediseases/chromosome-12p-duplication/

Chromosome. 8q duplication. is a rare chromosome abnormality. characterized by an extra copy (duplication) of genetic material ... that increases the risk to have a child with a chromosome 8q duplication.[1] Regardless of whether the duplication was ... Most cases of chromosome 8q duplication are not inherited. from a parent and occur by chance in people with no family history. ... on the long arm (q) of chromosome 8. The symptoms and severity depend on the size and location of the duplication, which genes ...

https://www.rarehematologynews.com/rarediseases/chromosome-8q-duplication/

THE ORGANIZATION AND DUPLICATION OF CHROMOSOMES AS REVEALED BY AUTORADIOGRAPHIC STUDIES USING TRITIUM-LABELED THYMIDINEE. ... Asynchronous duplication of human chromosomes and the origin of sex chromatin (English) ... Asynchronous duplication of human chromosomes and the origin of sex chromatin. scientific article ... Sex chromatin and the sex chromosomes: on the origin of sex chromatin from a single X chromosome ...

https://m.wikidata.org/wiki/Q36394766

DUPLICATION SYNDROME description, symptoms and related genes. Get the complete information in our medical search engi ... Chromosome 17p13.3, Centromeric, Duplication Syndrome Is also known as ;17p13.3 duplication syndrome; dup(17)(p13.3); trisomy ... Chromosome 17p13.3, Centromeric, Duplication Syndrome Recommended genes panels. Panel Name, Specifity and genes Tested/covered ... Chromosome 17p13.3, Centromeric, Duplication Syndrome. Description. 17p13.3 microduplication syndrome is characterized by ...

https://www.mendelian.co/diseases/chromosome-17p13-3-centromeric-duplication-syndrome

Duplication deficiency of the short arm of chromosome 8 following artificial insemination. / Weleber, R. G.; Verma, R. S.; ... Duplication deficiency of the short arm of chromosome 8 following artificial insemination. Annales de Genetique. 1976 Dec 1;19( ... Duplication deficiency of the short arm of chromosome 8 following artificial insemination. In: Annales de Genetique. 1976 ; Vol ... Weleber, RG, Verma, RS, Kimberling, WJ, Fieger, HG & lubs, HA 1976, Duplication deficiency of the short arm of chromosome 8 ...

https://ohsu.pure.elsevier.com/en/publications/duplication-deficiency-of-the-short-arm-of-chromosome-8-following-2

Germline duplication of chromosomes 10p15.3 and Yp11.32 in a man with learning disability and early onset cutaneous malignant ... Germline duplication of chromosomes 10p15.3 and Yp11.32 in a man with learning disability and early onset cutaneous malignant ... Germline duplication of chromosomes 10p15.3 and Yp11.32 in a man with learning disability and early onset cutaneous malignant ... title = "Germline duplication of chromosomes 10p15.3 and Yp11.32 in a man with learning disability and early onset cutaneous ...

https://mayoclinic.pure.elsevier.com/en/publications/germline-duplication-of-chromosomes-10p153-and-yp1132-in-a-man-wi

Artificial whole genome duplication in paleopolyploid sturgeons yields highest documented chromosome number in vertebrates * ... Artificial whole genome duplication in paleopolyploid sturgeons yields highest documented chromosome number in vertebrates * ... Chromosomes of Asian cyprinid fishes: cytogenetic analysis of two representatives of small paleotetraploid tribe Probarbini * ... Chromosomes of Asian cyprinid fishes: cytogenetic analysis of two representatives of small paleotetraploid tribe Probarbini * ...

https://www.nature.com/articles/nature09660?error=cookies_not_supported&code=eb4b84ae-e83f-46a5-8e4e-3508c243070a

Chromosome Disorders. Genetic Diseases, Inborn. Aneuploidy. Chromosome Aberrations. Chromosome Duplication. To Top ...

https://www.clinicaltrials.gov/ct2/show/NCT01821300

T1 - A novel microdeletion at chromosome 2q31.1-31.2 in a three-generation family presenting duplication of great toes with ... title = "A novel microdeletion at chromosome 2q31.1-31.2 in a three-generation family presenting duplication of great toes with ... A novel microdeletion at chromosome 2q31.1-31.2 in a three-generation family presenting duplication of great toes with ... A novel microdeletion at chromosome 2q31.1-31.2 in a three-generation family presenting duplication of great toes with ...

https://scholar.nycu.edu.tw/en/publications/a-novel-microdeletion-at-chromosome-2q311-312-in-a-three-generati

Chromosome Deletion. *Chromosome Duplication. *Chromosome Rearrangement Syndromes. *Connective Tissue Disorders. *Hearing Loss ... Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed. ...

https://www.childrens.com/specialties-services/specialty-centers-and-programs/genetics

Chromosomes (2) Apply Chromosomes filter *Circadian Rhythms (2) Apply Circadian Rhythms filter ...

https://www.hhmi.org/scientists/browse?kw=&%3Bamp%3Bsort_order=ASC&%3Bamp%3Bsort=asc&items_per_page=96&field_scientist_research_areas%5B3%5D=17641

Objective(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size. ... Search of duplications and/or deletions by array-CGH H pitaux Universitaires de Gen ve HUG ... Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis. Technique(s) : NGS sequencing (except ... Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis. Technique(s) : NGS sequencing (except ...

https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19302&Typ=Pat

A chromosome-level assembly of the cat flea genome uncovers rampant gene duplication and genome size plasticity *Timothy P. ... and serves as a sex-determining factor through chromosome formation in the bean borer moth Ostrinia scapularis26. However, ...

https://www.nature.com/articles/s41598-018-25545-y?error=cookies_not_supported&code=4f41f044-44d9-49d0-a801-2c1fc6925232

Fetal anomalies associated with an inversion duplication 13 chromosome.. Obstet. Gynecol. 1988; 71: 991-994. *PubMed ... Chemical subdomains within the kinetochore of isolated CHO mitotic chromosomes.. J. Cell Biol. 1991; 114: 285-294. *Scopus (78) ... Chromosomes move polewardin anaphase along stationary microtubules that coordinately disassemble from their kinetochore ends. ... Yeast centromere binding protein CBF1, of the helix-loop-helix protein family, is required for chromosome stability and ...

https://www.cell.com/cell/pdf/0092-8674

In addition, FISH demonstrated a 20 centimorgan duplication on chromosome 4. The duplication of chromosome 1 and 15 were ... Loss of the distal portion and duplication of the proximal region of chromosome 4 were observed in the primary tumor cell ... Mapping with FISH and CGH array further narrowed the region of duplication of chromosome 1 to five centimorgans. The minimal ... Gain of entire copies of chromosomes 1, 2, 6, 12, 15 and 19 were observed. Loss of entire copies of chromosomes 7, 8, and 14 ...

http://www2a.cdc.gov/nioshtic-2/BuildQyr.asp?s1=respiratory&f1=%2A&Startyear=&Adv=0&terms=1&EndYear=&Limit=10000&sort=&D1=10&PageNo=521&RecNo=5206&View=f&

Mutations in CMT1A are all caused by the same duplication of PMP22 on chromosome 1711 ,12 such that most patients have a ... The phenotypic manifestations of chromosome 17p11.2 duplication. Brain 1997;120:465-78. ... DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991;66:219-32. ... The most common CMT subtypes were CMT1A/PMP22 duplication, CMT1X/GJB1 mutation, CMT2A/MFN2 mutation, CMT1B/MPZ mutation, and ...

https://jnnp.bmj.com/content/86/8/873?ijkey=507b076e9915ce1ef7851607c59888d94cf67724&keytype2=tf_ipsecsha

A pair of stained chromosomes under the microscope. The chromosome on the right acquired an additional piece by duplication of ... A pair of stained chromosomes under the microscope. The chromosome on the right acquired an additional piece by duplication of ... Chromosomes stained with fluorescence dyes under the microscope. While all DNA is stained blue, a specific sequence stained ... Chromosomes stained with fluorescence dyes under the microscope. While all DNA is stained blue, a specific sequence stained ...

https://www.mpg.de/15199994/0723-moge-022114-better-recognition-of-chromosomal-diseases1

X Chromosome Duplication : X Chromosome Duplication is categorized as a rare diseas.... X Chromosome duplication between Xq27.2 ... See X Chromosome Duplication.. X Linked Retinoschisis : See Juvenile X-Linked Retinoschisis.. X-ALD : See Adrenoleukodystrophy. ...

https://www.psychforums.com/definition/dictionary-letter-X.htm

Gene structure variation in segmental duplication block C of human chromosome 7q 11.23 during primate evolution. Kim YJ, et al ... RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate assemblies. Model RNAs and proteins are also ...

https://www.ncbi.nlm.nih.gov/gene/378108

Polyploidy, duplication of entire sets of chromosomes, potentially resulting in a separate breeding population and speciation. ... Amplifications (or gene duplications) or repetition of a chromosomal segment or presence of extra piece of a chromosome broken ... Changes in chromosome number may involve even larger mutations, where segments of the DNA within chromosomes break and then ... For example, in the Homininae, two chromosomes fused to produce human chromosome 2; this fusion did not occur in the lineage of ...

https://en.wikipedia.org/wiki/Genetic_mutation

Fig. 1: Standard G-banded karyotype: each chromosome has a characteristic banding pattern, allowing the identification of gross duplications, deletions, additions and translocations. (cmaj.ca)
For deletions/duplications extending beyond the reference transcript resp. (lovd.nl)
Accumulations of TEs (TE islands) comprising 7.18% of the genome evolve faster than other regions with regard to single-nucleotide variants, gene/exon duplications and deletions and gene homology. (wurmlab.com)

Varius banding techniques were employed to identify the origin of the extra chromosomal material as most likely a duplication deficiency of the short arm of chromosome No. 8. (elsevier.com)
The vWF gene is located near the tip of the short arm of chromosome 12. (medscape.com)

Chromosome 22q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 22 . (rareophthalmologynews.com)
[1] Regardless of whether the duplication was inherited from a parent, a person with the duplication has an increased risk to have a child with a chromosome abnormality. (rarehematologynews.com)
2) at chromosome 1 at band q21, is a frequently encountered karyotype abnormality in MM, which is an adverse phenotype closely related to the survival of MM patients. (frontiersin.org)
The great majority of sporadic and familial cases show no cytogenetic abnormality, but approximately 2% carry duplications, inversions, or translocations affecting distal 11p. (jci.org)
Aneuploidy is an abnormality in the number of chromosomes in a cell due to loss or duplication. (genome.gov)
A significant increase in trisomy 7 frequency was detected in cytologically normal bronchial epithelium collected from four sites in one cancer -free smoker, whereas epithelium from the other smokers did not contain this chromosome abnormality. (cdc.gov)

In fact, these errors in chromosome segregation account for more than half of all early miscarriages. (mit.edu)
MEI-S332, discovered by Dr. Orr-Weaver and her colleagues, Dr. Anne W. Kerrebrock, Daniel P. Moore and Jim S. Wu, plays a critical role in keeping the chromosome segregation process on track in both eggs and sperm. (mit.edu)
these, in turn, will lead us to additional proteins and eventually allow us to decipher the entire system of molecules that participate in chromosome segregation. (mit.edu)
Regulation of microtubule (MT) dynamics is key for mitotic spindle assembly and faithful chromosome segregation. (upf.edu)

Amp1q21 may occur in the form of isochromosomes, duplications, or jumping translocations in MM ( 4 , 5 ). (frontiersin.org)
The use of 2 different gene-specific probes can detect translocations too small to detect by normal karyotyping, such as when genetic material from the c- abl oncogene on chromosome 9 is inserted into the BCR gene on chromosome 22 as occurs in chronic myelogenous leukemia. (cmaj.ca)
5 , 6 Chromosome painting does not detect translocations within chromosomes or allow precise identification of breakpoints. (cmaj.ca)

Rare Chromosome Disorder Support Group. (rarechromo.org)

Chromosomal abnormalities affecting human chromosome 15q11-q13 underlie multiple genomic disorders caused by deletion, duplication and triplication of intervals in this region. (nih.gov)
We now support 30,000 people with rare chromosome & gene disorders. (rarechromo.org)
Sharing for #CarersRightsDay in support of all carers, including those caring for people with rare chromosome & gene disorders, who are so often forgotten. (rarechromo.org)
To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders . (rareophthalmologynews.com)
Chromosomal disorders , where chromosomes (or parts of chromosomes) are missing or changed. (childrens.com)
The researchers applied a method called 'Hi-C' (High-throughput Chromosome Conformation Capture) to samples from patients with developmental disorders suspected to be caused by chromosomal rearrangements. (mpg.de)

The symptoms and severity depend on the size and location of the duplication, which genes are involved, and whether other chromosome abnormalities are also present. (rarehematologynews.com)
Features that have been more commonly reported in people with a chromosome 8q duplication include developmental delay , learning difficulties, congenital heart defects , skeletal abnormalities, genital or urinary abnormalities, and distinctive facial features. (rarehematologynews.com)
Most cases of chromosome 8q duplication are not inherited from a parent and occur by chance in people with no family history of chromosome abnormalities. (rarehematologynews.com)
In addition, dysregulation of HOXD gene cluster has been proposed to account for the limb abnormalities in patients with chromosome 2q rearrangements. (nycu.edu.tw)
Alternate explanations for the origin of the patient's chromosome abnormalities include parental gonadal mosaicism, nonallelic homologous recombination, or potentially intrachromosomal transposition of the telomeres of chromosome 6. (hindawi.com)
Standard G-banding (Giemsa, Leishman's or variant) produces a banding pattern that is characteristic of the individual chromosomes and allows identification of abnormalities in the number and morphology (deletion, addition, translocation of large segments of DNA) of chromosomes ( Fig. 1 ). (cmaj.ca)

We identified and validated an interstitial microdeletion of ∼3.4Mb at chromosome 2q31.1-31.2 by array-based comparative genomic hybridization, fluorescence in situ hybridization, and real-time quantitative polymerase chain reaction that cosegregates with the clinical phenotypes in this family. (nycu.edu.tw)
The delineation of the microdeletion region may contribute to the genotype-phenotype correlation study in patients with genomic rearrangements of the long arm of chromosome 2 and helps to understand the pathogenesis of haploinsufficiency of the HOXD gene cluster. (nycu.edu.tw)
Mapping with fluorescent in situ hybridization and comparative genomic hybridization (CGH) array further narrowed the minimum region of duplication of chromosome 1 to 71 to 82 centimorgans (cM) as well as three deleted regions from 67-69 cM, 84-84 cM and 100-110 cM. (cdc.gov)
Because the regulation of imprinted genes in the homologous region in the mouse (distal region of chromosome 7) is broadly conserved between mice and humans, experiments in mice have complemented molecular analyses of BWS pathology and have contributed greatly to our current knowledge of mammalian genomic imprinting mechanisms. (jci.org)
The genetics of BWS are complex, but evidence for genomic imprinting effects is present for each of the 3 major subgroups of patients (familial, sporadic, and those with chromosome anomalies) (see ref. 3 and references cited therein). (jci.org)
Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence. (lovd.nl)

FISH does not require cells to be in the metaphase before analysis, because it relies upon the presence or absence of a fluorescent signal to identify chromosomes or parts of chromosomes, rather than a specific banding pattern. (cmaj.ca)

Although a majority of chromosomal duplication-deletion cases have resulted from a parental pericentric inversion, the parents of our case have normal chromosomes. (hindawi.com)

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. (bvsalud.org)

A 47-kd human nuclear protein recognized by antikinetochore autoimmunesera is homologous with the protein encoded by RCC1, a gene implicated in onset of chromosome condensation. (cell.com)
The homologous linkage groups on human chromosomes 1q32-41, 2q, 8q24 and 8p are altered in invasive human lung cancer. (cdc.gov)
These cells, like all other cells in the body, carry two separate copies of each human chromosome, for a total of 46 chromosomes (or 23 homologous pairs). (mit.edu)
When the line-up is complete, the cell division apparatus-a framework resembling a system of guide wires anchored at each end of the cell-pulls the homologous chromosomes apart. (mit.edu)
The homologous linkage groups on human chromosomes 9p2I, 1p36, 9q and 8q are altered in asbestos -induced human lung adenocarcinoma. (cdc.gov)

Loss of the distal portion and duplication of the proximal region of chromosome 4 were observed in the primary tumor cell cultures. (cdc.gov)
Duplication of the proximal region of chromosome 4 occurred in 22% of the spontaneously-occurring high-invasive cells strains and 83% of the chemically-induced high-invasive cell culrures. (cdc.gov)

There was no significant haplotype association within the duplicated region suggesting that the duplication resulted de novo as an independent event in each family. (bmj.com)
This is the first reported de novo case of distal 6p duplication and distal 6q deletion. (hindawi.com)

Because some people with a 17q12 duplication have no obvious intellectual or physical problems, researchers suspect that additional genetic factors may influence whether a person has signs and symptoms related to the chromosomal change. (medlineplus.gov)
X-linked dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome. (rareophthalmologynews.com)
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. (rareophthalmologynews.com)
A genetic evaluation demonstrated Klinefelter syndrome 47, XXY karyotype with concurrent duplication of 3p21.31 by microarray analysis. (medscape.com)
Maternal genetic analysis demonstrated the same 3p21.31 duplication. (medscape.com)
Mutations can involve the duplication of large sections of DNA, usually through genetic recombination . (wikipedia.org)
In humans, the partitioning of chromosomes-the threadlike structures that transmit our genetic inheritance-is one of the most delicate steps preceding the birth of a healthy child. (mit.edu)
Linkage studies are either performed as full genome screens with a dense set of genetic markers covering all chromosomes, or locally (fine-mapping) at a certain chromosomal area of interest. (springer.com)
If whole genes were sometimes duplicated by the mechanisms described in the previous section, the bearer of the duplication would have a surplus of genetic information that might be turned to good use. (thelib.info)
It works by triggering a genetic pathway starting with a gene called SOX9 which is key for male determination in all vertebrates, although it does not lie on sex chromosomes. (oniscience.com)

The duplication of chromosome 1 and 15 and deletion of chromosome 8 were significant in high invasive cultures compared to low invasive cultures. (cdc.gov)
FISH mapping further narrowed the region of deletion of chromosome 4 to 39.6 centimorgans (cM) and the region of duplication to 10-35 cM. (cdc.gov)

Chromosomes stained with fluorescence dyes under the microscope. (mpg.de)
First time we have attempted fluorescence in situ hybridization (FISH) using NOR probe (dJ1174 A5) and FISH analysis revealed NOR duplication on chromosome 15 which was also quantitated using Q-FISH software. (who.int)

That occurs when part of a third or extra chromosome attaches to the 18th chromosome in every cell of the body, affecting every major organ and system. (catholicvoiceomaha.com)
An aberration in which an extra chromosome or a chromosomal segment is made. (bvsalud.org)

Increased copy number and expression of the genes on mouse chromosome 1 may play a functional role in lung cancer development and may aid in the identification of mouse and human lung cancer susceptibility genes. (cdc.gov)
Amplification of mouse chromosome 4 in chemically induced and invasive mouse lung adenocarcinoma. (cdc.gov)
Mouse chromosome 1 and 15 were amplified in 90% of the high-invasive cell strains. (cdc.gov)

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. (bmj.com)
A duplication within chromosome 17p11.2, cosegregating with the disease, has recently been reported in several CMT1a families. (bmj.com)
In order to estimate the frequency of this anomaly and determine the location of a duplication in this region, 12 CMT1 families were analysed with polymorphic DNA markers located within 17p11.2-12. (bmj.com)
PTLS is associated with microduplication at chromosome 17p11.2. (koreamed.org)
Chromosome 17p11.2 duplication was identified by conventional karyotyping analysis only in one patient, whereas the other confirmed by MLPA analyses. (koreamed.org)

Mapping with FISH and CGH array further narrowed the region of duplication of chromosome 1 to five centimorgans. (cdc.gov)

The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a duplication. (rareophthalmologynews.com)
In some cases, one parent has a rearrangement of chromosomal material, such as a balanced translocation or inversion , that increases the risk to have a child with a chromosome 8q duplication. (rarehematologynews.com)

A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). (wikidata.org)
Cite this: Autism Spectrum Disorder, Klinefelter Syndrome, and Chromosome 3p21.31 Duplication: A Case Report - Medscape - Dec 18, 2007. (medscape.com)
Mariah was born with a rare condition called Chromosome Two Duplication Syndrome that impairs her learning and motor skills, WCBD reports . (q13fox.com)
Clementi M, Tenconi R, Turolla L, Silvan C, Bortotto L, Artifoni L. Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome. (medscape.com)

To our knowledge, our report is just the sixth case in the literature with concomitant distal 6p duplication and distal 6q deletion. (hindawi.com)
There is an even greater paucity of information with concomitant distal 6p duplication and distal 6q deletion, also called distal trisomy 6p and distal monosomy 6q. (hindawi.com)

The duplication occurs on the long (q) arm of the chromosome at a position designated q12. (medlineplus.gov)
The final division of chromosomes occurs in the second act of meiosis, when the sister chromatids again line up in the middle of the cell and the cell division apparatus reforms. (mit.edu)

Gene structure variation in segmental duplication block C of human chromosome 7q 11.23 during primate evolution. (nih.gov)
Single segmental gene duplication was observed between the genes SbSOD2 and SbSOD5. (tubitak.gov.tr)
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. (anthropogeny.org)

Another method, called comparative genome hybridization, works with fluorescent DNA snippets and shows gaps and duplications in the genome more precisely. (mpg.de)

In humans, aneuploidy would be any number of chromosomes other than the usual 46. (genome.gov)
Humans have 22 pairs of autosomes and one pair of sex chromosomes (XX or XY). (genome.gov)
In turn, this must mean the Y chromosome has lost 900-55 active genes over the 166 million years that humans and platypus have been evolving separately. (oniscience.com)

In addition, we used indirect immunofluorescence to demonstrate that these antibodies recognize centromeres of HeLa chromosomes in the expected pattern for CENP-C. Localization of CENP-C by immunoelectron microscopy reveals that this protein is a component of the inner kinetochore plate. (cell.com)

Features that often occur in people with chromosome 22q duplication include developmental delay , intellectual disability , behavioral problems and distinctive facial features. (rareophthalmologynews.com)
Features that often occur in people with chromosome 12p duplication include macrocephaly (unusually large head), abnormal muscle tone, characteristic facial features, developmental delay and intellectual disability . (rareginews.com)

Injection of anticentromere antibodies in interphase disrupts events required for chromosome movement at mitosis. (cell.com)

Behavioral and psychiatric conditions that have been reported in people with 17q12 duplications include autism spectrum disorder (which affects social interaction and communication), schizophrenia , aggression, and self-injury. (medlineplus.gov)

We report on a 12-year-old female with both a partial duplication and deletion involving chromosome 6. (hindawi.com)
A partial, nonfunctional duplication (pseudogene) is present on chromosome 22. (medscape.com)

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype. (rareophthalmologynews.com)
X-linked recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder. (rareophthalmologynews.com)

17q12 duplications have an autosomal dominant pattern of inheritance, which means one copy of the duplication in each cell is sufficient to cause the signs and symptoms. (medlineplus.gov)
Autosomal" means that the gene in question is located on one of the numbered, or non-sex, chromosomes. (genome.gov)

A pair of stained chromosomes under the microscope. (mpg.de)
In platypus, the XY pair is just an ordinary chromosome, with two equal members. (oniscience.com)
This suggests the mammal X and Y were an ordinary pair of chromosomes not that long ago. (oniscience.com)

Investigations of the minimal region of alteration of chromosome 4 by fluorescent in situ hybridization (FISH) and BAC array demonstrated the deletion of a 3 centimorgan region in the middle portion of the chromosome. (cdc.gov)

The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. (rareophthalmologynews.com)

But more often than might be expected, the mechanisms regulating chromosome separation fail. (mit.edu)
We are studying the mechanisms by which two-component pathways diverge after duplication to create novel signaling pathways that are insulated from existing pathways. (mit.edu)

This duplication affects one of the two copies of chromosome 17 in each cell. (medlineplus.gov)
Loss of entire copies of chromosomes 7, 8, and 14 were significant in the primary tumor cell cultures. (cdc.gov)
While all DNA is stained blue, a specific sequence stained pink appears duplicated in one of the two copies of chromosome 17, but not the other. (mpg.de)
It binds together chromosome copies during meiosis, the basic program for sexual reproduction. (mit.edu)

GTDs contain paternal chromosomes and are placental, rather than maternal, in origin. (cancer.gov)

The structural maintenance of chromosomes (SMC) protein complexes shape and regulate the structure and dynamics of chromatin, thereby controlling many chromosome-based processes such as cell cycle progression, differentiation, gene transcription and DNA repair. (mdpi.com)
Parental allele-specific alterations in the chromosome environment of imprinted genes are revealed by the presence of asynchronous DNA replication and differences in chromatin structure and modification (e.g., histone acetylation). (jci.org)

Scientists estimate that the partitioning process goes awry in about 10 percent of human conceptions, leaving some embryos with too many chromosomes and others with too few. (mit.edu)
The sex of human and other mammal babies is decided by a male-determining gene on the Y chromosome. (oniscience.com)
But the human Y chromosome is degenerating and may disappear in a few million years, leading to our extinction unless we evolve a new sex gene. (oniscience.com)
The imminent - evolutionarily speaking - disappearance of the human Y chromosome has elicited speculation about our future. (oniscience.com)
To reproduce, we need sperm and we need men, meaning that the end of the Y chromosome could herald the extinction of the human race. (oniscience.com)

During these cell divisions, the chromosomes group and regroup in an elaborate dance to ensure that each daughter cell receives the precise number and types of chromosomes required for normal life. (mit.edu)

The identical NOR duplication also detected in chromosome preparations from products of conception. (who.int)

The cells are then swollen by the addition of hypotonic solution to disperse the chromosomes, which are fixed chemically, examined microscopically and then stained. (cmaj.ca)

and occur in people with no history of the duplication in their family. (medlineplus.gov)

The duplication of chromosome 1 between bands E2 and H1 was the most significant chromosomal change in the invasive cell strains. (cdc.gov)

The duplications were completely linked and associated with the disease (lod score of 20.77 at zero recombination). (bmj.com)
This part was duplicated and inserted in another part of the same chromosome, which leads to disease. (mpg.de)

Karyotyping is the isolation, staining and visual examination of chromosomes to find chromosomal rearrangements. (cmaj.ca)

Genetics Home Reference (GHR) contains information on Chromosome 22q duplication. (rareophthalmologynews.com)
Mihci, E & Lindor, NM 2008, ' Germline duplication of chromosomes 10p15.3 and Yp11.32 in a man with learning disability and early onset cutaneous malignant melanoma ', American Journal of Medical Genetics, Part A , vol. 146, no. 17, pp. 2298-2300. (elsevier.com)

The most common CMT subtypes were CMT1A/ PMP22 duplication, CMT1X/ GJB1 mutation, CMT2A/ MFN2 mutation, CMT1B/ MPZ mutation, and hereditary neuropathy with liability to pressure palsy/ PMP22 deletion. (bmj.com)

Clonal dissemination is associated with chromosome replication, plasmid conjugation with replicative transfer, and gene migration with replicative transposition ( 1 ). (cdc.gov)

Signs and symptoms related to 17q12 duplications vary significantly, even among members of the same family. (medlineplus.gov)

MEI-S332 is the first protein in any species shown to hold together chromosomes until the exact moment in cell division when they must separate to ensure proper development of eggs and sperm. (mit.edu)
Through gene duplication and divergence, organisms have dramatically expanded a limited set of signaling proteins, giving rise to large, paralogous protein families that endow cells with sophisticated information processing capabilities. (mit.edu)

Fig. 2: Visualization of genes using locus-specific FISH probes: red signals (see arrows) hybridized to the chromosomes of a metaphase cell and an adjacent interphase nucleus demonstrate normal numbers of the cyclin D1 gene. (cmaj.ca)

Some individuals with the duplication have no apparent signs or symptoms, or the features are very mild. (medlineplus.gov)

In this report, we investigated a three-generation family presenting clinical phenotypes of duplication of great toes, tapering fingers, and clinodactyly of the fifth finger in both hands, which were transmitted in a dominant fashion in this family. (nycu.edu.tw)

The mole voles of eastern Europe and the spiny rats of Japan each boast some species in which the Y chromosome, and SRY, have completely disappeared. (oniscience.com)
2015). For example, while for most animal species the sex is genetically determined by sex chromosomes, for some reptile species, sex is decided by environmental factors, such as the temperature at which the egg is hatched (Bull, 1980). (bibf1120.com)

HOXD gene cluster maps to chromosome 2q31 and plays a key role in embryonic limb morphogenesis. (nycu.edu.tw)

[11] Novel genes are produced by several methods, commonly through the duplication and mutation of an ancestral gene, or by recombining parts of different genes to form new combinations with new functions. (wikipedia.org)

Changes in chromosome number may involve even larger mutations, where segments of the DNA within chromosomes break and then rearrange. (wikipedia.org)

Anatomy61

Organisms16

Diseases29

Chemicals and Drugs28

Analytical, Diagnostic and Therapeutic Techniques and Equipment24

Psychiatry and Psychology1

Phenomena and Processes169

Disciplines and Occupations3

Technology, Industry, Agriculture3

Information Science4

Genomic profile of copy number variants on the short arm of human chromosome 8. (1/99)

A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications. (2/99)

Array-CGH and quantitative PCR genetic analysis in a case with bilateral hypoplasia of pulmonary arteries and lungs and simultaneous unilateral renal agenesis. (3/99)

MIRA-SNuPE, a quantitative, multiplex method for measuring allele-specific DNA methylation. (4/99)

Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia. (5/99)

Advanced age increases chromosome structural abnormalities in human spermatozoa. (6/99)

Phenotypic manifestations of copy number variation in chromosome 16p13.11. (7/99)

Visualization of fine-scale genomic structure by oligonucleotide-based high-resolution FISH. (8/99)

Gene Duplication

Chromosome Duplication

Chromosomes

DNA Replication

Chromosome Mapping

Chromosome Banding

X Chromosome

Chromosome Aberrations

Sex Chromosomes

Chromosomes, Human, Pair 1

Chromosomes, Human

Segmental Duplications, Genomic

Chromosomes, Bacterial

Chromosomes, Human, Pair 17

Chromosomes, Human, Pair 7

Chromosome Segregation

Chromosome Deletion

Chromosomes, Human, Pair 11

Chromosomes, Plant

Chromosomes, Human, Pair 6

Chromosomes, Human, Pair 9

Evolution, Molecular

Chromosomes, Human, Pair 21

Chromosomes, Fungal

Chromosomes, Human, Pair 16

Chromosomes, Human, Pair 22

Chromosomes, Human, 6-12 and X

Chromosomes, Human, Pair 2

Molecular Sequence Data

Chromosomes, Artificial, Bacterial

Chromosomes, Human, X

Chromosome Disorders

Chromosomes, Mammalian

In Situ Hybridization, Fluorescence

Chromosomes, Human, Pair 15

Chromosomes, Human, Pair 10

Chromosomes, Human, Y

Karyotyping

Chromosomes, Human, Pair 13

Chromosomes, Human, Pair 4

Chromosomes, Human, Pair 8

Multigene Family

Chromosome Pairing

Base Sequence

Chromosomes, Human, Pair 19

Chromosomes, Human, Pair 5

Chromosomes, Human, Pair 12

Chromosomes, Human, 1-3

Chromosome Breakage

Phylogeny

Chromosome Painting

Chromosome Inversion

Chromosomes, Human, Pair 14

Genetic Linkage

Chromosomes, Human, Pair 18

Chromosomes, Artificial, Yeast

Chromosomes, Human, Pair 20

Chromosomes, Human, 16-18

Genes, Duplicate

Chromosomes, Human, 13-15

Genetic Markers

Chromosomes, Human, 21-22 and Y

Ring Chromosomes

Recombination, Genetic

Mutation

Amino Acid Sequence

Translocation, Genetic

Centromere

Chromosome Positioning

Models, Genetic

Chromosomes, Human, 4-5

X Chromosome Inactivation

Sequence Analysis, DNA

Phenotype

Chromosomes, Insect

Meiosis

Gene Dosage

Mitosis

Aneuploidy

Pedigree