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)

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

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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)

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

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

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

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Abstract: Abstract Background The inability to analyze gene expression in living neurons from Angelman (AS) and Duplication 15q (Dup15q) syndrome subjects has limited our understanding of these disorders at the molecular level. Method Here, we use dental pulp stem cells (DPSC) from AS deletion, 15q Duplication, and neurotypical control subjects for whole transcriptome analysis. We identified 20 genes unique to AS neurons, 120 genes unique to 15q duplication, and 3 shared transcripts that were differentially expressed in DPSC neurons vs controls. Results Copy number correlated with gene expression for most genes across the 15q11.2-q13.1 critical region. Two thirds of the genes differentially expressed in 15q duplication neurons were downregulated compared to controls including several transcription factors, while in AS differential expression was restricted primarily to the 15q region. Here, we show significant downregulation of the transcription factors FOXO1 and HAND2 in neurons from 15q ...
Article 1 Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder Sureni V Mullegama et al. The European Journal of Human Genetics (2013), 1-7 This article describes a new chromosome duplication syndrome, 2q23.1 duplication. This duplication includes the MBD5 gene, the same gene involved in the 2q23.1 deletion syndrome.…
The first hints of the complex organization of the maize genome came from cytological studies. Although maize is diploid, early studies by McClintock (3, 4) demonstrated the association of nonhomologous chromosomes during meiosis. Later studies documented the formation of bivalents and multivalents in maize haploids (5, 6). Altogether, cytological observations suggested that the maize genome contains extensive regions of homology, probably reflecting chromosomal duplications.. Evidence for chromosomal duplication also came from linkage information. In 1951, Rhoades (7, 8) noted that some regions of linkage maps did not contain mutants, and he proposed that the lack of mutants reflected genetic redundancy caused by chromosomal duplication. Rhoades proposal has since been supported by molecular data. For example, isozyme studies have documented the presence of duplicated, linked loci in maize (9-12), and restriction fragment length polymorphism mapping studies have shown that many markers map to ...
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the groups website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.. ...
TY - JOUR. T1 - A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies. AU - Zahir, Farah R.. AU - Langlois, Sylvie. AU - Gall, Kim. AU - Eydoux, Patrice. AU - Marra, Marco A.. AU - Friedman, Jan M.. PY - 2009/6. Y1 - 2009/6. N2 - We report on a 14-year-old girl with mild cognitive impairment, deafness, and an unusual pattern of anomalies associated with a previously unreported de novo duplication of chromosome 17q21.33. The 1.1 Mb duplication was detected by Affymetrix 100K GeneChip® array genome hybridization and involves the genomic region between 45,093,544 and 46,196,038 base pairs on chromosome 17 (NCBI build 36.1). The patient has microcephaly, unusual cup-shaped ears, scoliosis and other skeletal defects. Two genes involved in the duplicated region, PPP1R9B and COL1A1, are strong candidates for producing her phenotype.. AB - We report on a 14-year-old girl with mild cognitive impairment, deafness, and an unusual pattern of anomalies ...
Chromosome 5q duplication syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Failure to Diagnose Chromosome 12q duplication syndrome including overlooked symptoms and complications for under-diagnosed medical conditions.
In the last years pioneer studies have presented first analysis methods for genome data in a disease context. Several data quality control and statistical methods are now well established and more and more data is available for application. This weeks studies point out the importance of thinking outside the box as well as data dissecting from a different perspective.. Ohnologs and CNVs. Is a specific class of genes overrepresented in large recurrent pathogenic CNVs? Using an evolutionary genetic approach, McLysaght and colleagues demonstrate that ohnologs are overrepresented in pathogenic CNVs in their recent PNAS study. Ohnologs are genes retained after ancestral whole-genome duplication events. McLysaght and colleagues suggest that ohnologs represent critical dosage-sensitive elements of the genome and are possibly responsible for some of the deleterious phenotypes observed for pathogenic CNVs. In the field of epilepsy genetics, we usually identify a huge amount of truncating mutations in an ...
The student must acquire knowledge on the main microdeletion /microduplication syndromes and the related investigation techniques.. ...
Synaptic dysfunction in amygdala in intellectual disorder models. Prog Neuropsychopharmacol Biol Psychiatry 2017, 10.1016/j.pnpbp.2017.07.028.. **************************************************************************************************. Penn, A C, Zhang, C L, Georges, F, Royer, L, Breillat, C, Hosy, E, Petersen, J D, Humeau, Y and Choquet, D (2017) Hippocampal LTP and contextual learning require surface diffusion of AMPA receptors. Nature 2017, 10.1038/nature23658.. **************************************************************************************************. Arbogast T, Iacono G, Chevalier C, Afinowi N, Houbaert X, van Eede M, Laliberté C, Birling MC, Selloum M, Linda K, Meziane H, Sorg T, Nadif Kasri N, Koolen D, Stunnenberg H, Henkelman M, Kopanitsa M, Humeau Y, de Vries B, Herault Y (2017). Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition, synaptic transmission and neurogenesis. PLoS Genetics 2017, ...
Complete information for DUP22Q11.2 gene (Uncategorized), Chromosome 22q11.2 Microduplication Syndrome, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
In many organisms descended from polyploid ancestors (shown in the figure below), ohnologs are associated with unique evolutionary innovations. For example, ohnologs are known to be associated with signaling pathways and developmental genes in vertebrates and most likely facilitated increased genomic, morphological and developmental complexity of vertebrates. In addition, ohnologs have been shown to present an enhanced susceptibility to deleterious mutations and are frequently associated with cancer and other genetic diseases. Therefore, these evolutionary observations also hold predictive power to identify and prioritize disease gene candidates and driver mutations in the NGS studies to sequence cancer genomes.. ...
Microdeletions and microduplications in the genome are caused by chromosome misalignment between blocks of region‐specific low copy repeats and result in genomic disorders
Translocated chromosomal duplications occur spontaneously in many organisms; segmental duplications of large chromosomal regions are expected to result in phenotypic changes because of gene dosage effects. Therefore, experimentally generated segmental duplications in targeted chromosomal regions can be used to study phenotypic changes and determine the functions of unknown genes in these regions. Previously, we performed tandem duplication of a targeted chromosomal segment in Aspergillus oryzae. However, in tandem chromosomal duplication, duplication of chromosomal ends and multiple chromosomal duplication are difficult. In this study, we aimed to generate fungal strains with a translocated duplication or triplication of a targeted chromosomal region via break-induced replication. Double-strand breaks were introduced into chromosomes of parental strains by treating protoplast cells with I-SceI meganuclease. Subsequently, strains were generated by nonreciprocal translocation of a 1.4-Mb duplicated region
Translocated chromosomal duplications occur spontaneously in many organisms; segmental duplications of large chromosomal regions are expected to result in phenotypic changes because of gene dosage effects. Therefore, experimentally generated segmental duplications in targeted chromosomal regions can be used to study phenotypic changes and determine the functions of unknown genes in these regions. Previously, we performed tandem duplication of a targeted chromosomal segment in Aspergillus oryzae. However, in tandem chromosomal duplication, duplication of chromosomal ends and multiple chromosomal duplication are difficult. In this study, we aimed to generate fungal strains with a translocated duplication or triplication of a targeted chromosomal region via break-induced replication. Double-strand breaks were introduced into chromosomes of parental strains by treating protoplast cells with I-SceI meganuclease. Subsequently, strains were generated by nonreciprocal translocation of a 1.4-Mb duplicated region
Interstitial deletions of 3q29 have been recently described as a microdeletion syndrome mediated by nonallelic homologous recombination between low-copy repeats resulting in an ~1.6 Mb common-sized deletion. Given the molecular mechanism causing the deletion, the reciprocal duplication is anticipated to occur with equal frequency, although only one family with this duplication has been reported. In this study we describe 14 individuals with microdeletions of 3q29, including one family with a mildly affected mother and two affected children, identified among 14,698 individuals with idiopathic mental retardation who were analyzed by array CGH. Eleven individuals had typical 1.6-Mb deletions. Three individuals had deletions that flank, span, or partially overlap the commonly deleted region. Although the clinical presentations of individuals with typical-sized deletions varied, several features were present in multiple individuals, including mental retardation and microcephaly. We also identified 19
Abnormalities in chromosomal copy number (or aneuploidies) often lead to cancer (Davoli et al. 2013; Potapova et al. 2013; Sheltzer 2013; Durrbaum and Storchova 2015, 2016; Laubert et al. 2015; Mohr et al. 2015; Nicholson and Cimini 2015; Pinto et al. 2015; Santaguida and Amon 2015), developmental defects (Ottesen et al. 2010; Gannon et al. 2011; Siegel and Amon 2012; Akasaka et al. 2013; Bose et al. 2015), premature aging (Andriani et al. 2016; Sunshine et al. 2016), and other health issues in humans. In the budding yeast Saccharomyces cerevisiae, aneuploidies also tend to be deleterious (Torres et al. 2007; Yona et al. 2012; Potapova et al. 2013; Dodgson et al. 2016; Sunshine et al. 2016). However, in some cases, these aneuploidies are conditionally beneficial, as they can enable yeast to tolerate specific loss-of-function mutations or environmental stresses (Selmecki et al. 2009, 2015; Pavelka et al. 2010; Chen et al. 2012a,b; Yona et al. 2012; Tan et al. 2013; Kaya et al. 2015; Liu et al. ...
TY - JOUR. T1 - 40 Mb duplication in chromosome band 5p13.1p15.33 with 800 kb terminal deletion in a foetus with mild phenotypic features. AU - Izzo, A.. AU - Genesio, R.. AU - Ronga, V.. AU - Nocera, V.. AU - Marullo, L.. AU - Cicatiello, R.. AU - Sglavo, G.. AU - Paladini, D.. AU - Conti, A.. AU - Nitsch, L.. PY - 2012/2. Y1 - 2012/2. N2 - Large duplication of the short arm of chromosome 5 is a rare condition normally associated to severe phenotype anomalies including heart and brain malformations. We report a prenatal case of a large 5p duplication with sub-telomeric deletion in a foetus with very mild phenotypic abnormalities. Foetal ultrasonographic examination at 22 weeks of gestation showed short femur, clubfeet, pielectasy, and facial dysmorphisms. Chromosome investigations revealed an inverted duplication of the short arm of chromosome 5 from 5p13.1 to 5p15.33 and a 800 kb deletion at 5pter. The absence of severe anomalies such as cardiac and cerebral defects, observed so far in all ...
Although radiation-induced chromosome exchanges are not distributed among cells according to a Poisson distribution, chromatid interchanges are. In Vicia faba the lack of fit to a Poisson distribution has been attributed to the occurrence of only two sites per cell where the chromosomes are close enough to form exchanges if broken. When chromatid aberrations are induced, after chromosomal duplication, the number of sites more than doubles. ...
A paediatric microarray is specifically looking for CNVs that affect health. A microarray is an appropriate test for the investigation of genetic causes of intellectual disability, developmental and behavioural conditions such as autism spectrum disorders, congenital malformations and for some familial genetic conditions. A microarray detects the likely cause of developmental problems in about 15% of referrals.. A microarray replaces most tests looking at microdeletion and microduplication syndromes (eg Di-George syndrome), but does not replace all other genetic investigations. Tests with complex genetics, like fragile X syndrome, need to be requested and performed separately. For specific information on microarray testing, please contact the laboratory.. Parental microarray testing is often required and may be used to help determine the significance of some CNVs, where the clinical significance is yet to be fully determined.. ...
We found evidence for an interaction between genetic, environmental and epigenetic risk factors for autism last year. Postmortem brain tissue from people with a duplication of DNA on chromosome 15 contains unusually high levels of a pollutant known as PCB 957. This chromosomal duplication is associated with autism. PCB 95 comes mostly from dietary sources such as fish, dairy and meat. And it accumulates in fatty tissues, including the brain.. We tested the effects of the duplication by itself and in combination with PCB 95 exposure in a human neuronal cell line. We found that certain genes have fewer methyl groups than expected in neurons with the duplication. Some of these genes are similarly under-methylated in neurons exposed to PCB 95 alone.. When we exposed neurons with the duplication to PCB 95, we saw a dearth of methyl groups for even more genes. Some of the neurons spontaneously acquired a second duplication in chromosomal region 22q. These neurons had the lowest proportion of ...
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A practical colden download of Dimitrov is in the group of Place Bulgarie in Cotonou, Republic of Benin, two seconds after the policy was intention and the wild fight of Vladimir Lenin spread sent from Place Lenine. spiritual Beninois reveal active of the request of the fire or its place. 114) done for him in Phnom Penh, Cambodia, despite the three people that look fled since the internet of forgotten regime.
International Journal of Genomics is a peer-reviewed, Open Access journal that publishes research articles as well as review articles in all areas of genome-scale analysis. Topics covered by the journal include, but are not limited to: bioinformatics, clinical genomics, disease genomics, epigenomics, evolutionary genomics, functional genomics, genome engineering, and synthetic genomics.
BACKGROUND: Increased secretion of growth hormone leads to gigantism in children and acromegaly in adults; the genetic causes of gigantism and acromegaly are poorly understood.. METHODS: We performed clinical and genetic studies of samples obtained from 43 patients with gigantism and then sequenced an implicated gene in samples from 248 patients with acromegaly.. RESULTS: We observed microduplication on chromosome Xq26.3 in samples from 13 patients with gigantism; of these samples, 4 were obtained from members of two unrelated kindreds, and 9 were from patients with sporadic cases. All the patients had disease onset during early childhood. Of the patients with gigantism who did not carry an Xq26.3 microduplication, none presented before the age of 5 years. Genomic characterization of the Xq26.3 region suggests that the microduplications are generated during chromosome replication and that they contain four protein-coding genes. Only one of these genes, GPR101, which encodes a G-protein-coupled ...
TY - JOUR. T1 - Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication. AU - Starr, Lois J.. AU - Sanmann, Jennifer N.. AU - Olney, Ann Haskins. AU - Wandoloski, Melissa. AU - Sanger, Warren G.. AU - Coulter, Donald W.. PY - 2014/4. Y1 - 2014/4. N2 - Duplications of the long arm of chromosome 18 have been previously reported in patients with phenotypic findings similar to full trisomy 18. Trisomy 18 increases the risk for Wilms tumor and it is currently recommended that these patients undergo abdominal ultrasonography screening every 6 months. We report on nephroblastomatosis in a 27-month-old male with a 55Mb duplication of chromosome 18q11.2-q23 (chr18:22693370-77982126, hg 19) and propose that the trisomy 18 tumor screening protocol could also benefit patients with large 18q duplications.. AB - Duplications of the long arm of chromosome 18 have been previously reported in patients with phenotypic ...
Detection of FMR1 triplet expansion with fragment analysis in premature ovarian failure patient.. Genetic investigation in the disorders of sexual differentiation: Mutation analysis of the SRY, desert hedgehog (DHH), androgen receptor (AR), 5α-reductase (SRD5A2) and WT1 genes in children with genital abnormalities.. 2. DNA microarray is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability, autism spectrum disorders or multiple congenital anomalies. Microarray analysis can identify candidate regions and genes in patients with unexplained mental retardations and developmental delays and discover novel microdeletion and microduplication syndromes. In cases with structural chromosome aberrations the identification of precise breakpoints and involved genes using microarray will allow the better understanding of pathogenesis and study of genotype-phenotype correlation.. 3. Bone disorders: craniosynostosis, achondro- and ...
Gene duplication (or chromosomal duplication or gene amplification) is a major mechanism through which new genetic material is generated during molecular evolution. It can be defined as any duplication of a region of DNA that contains a gene. Gene duplications can arise as products of several types of errors in DNA replication and repair machinery as well as through fortuitous capture by selfish genetic elements. Common sources of gene duplications include ectopic recombination, retrotransposition event, aneuploidy, polyploidy, and replication slippage. Duplications arise from an event termed unequal crossing-over that occurs during meiosis between misaligned homologous chromosomes.The chance of this happening is a function of the degree of sharing of repetitive elements between two chromosomes. The products of this recombination are a duplication at the site of the exchange and a reciprocal deletion. Ectopic recombination is typically mediated by sequence similarity at the duplicate ...
Marianne is an Instructional Designer working in Downtown Detroit. Shes been an active volunteer in the community primarily focusing on efforts with Make A Wish Michigan. In April 2017 she had her first child, Olivia. Olivia was born with three continental heart defects: Atrial Septal Defect, Coarctation of the Aorta, and a Bicuspid Valve. In addition to her defects, she was also born with a Chromosomal Duplication and Hypothyroidism. She had her first heart surgery at four days old to repair two of the defects at Motts Childrens Hospital in Ann Arbor. After working so closely with children battling critical illnesses for years and then having a child of her own with a range of medical needs, she knew she wanted to provide more support specifically to The Childrens Heart Foundations community. She has a goal to write and illustrate a series of childrens books on children with Congenital Heart Defects. ...
XLAG is a novel genetic cause of GH excess. It usually presents at a very early age as a sporadic disease due to a de novo microduplication on the X chromosome involving the GPR101 gene in patients with gigantism (40-42). The majority of the cases are females with germline microduplication (14, 40, 42). Two familial cases have been described with transmission from affected mother to an affected son and show full penetrance (14). Somatic mosaic mutation cases have also been described in males where the mutation was identified in the pituitary tissue and/or at low level in germline (18, 41, 42). Although the originally identified Xq26.3 duplicated area involves four genes (14), only one of these, the GPR101 gene, has been found upregulated at the mRNA level in pituitary tissue. We have recently identified a patient with XLAG whose duplicated area includes only the GPR101 gene, but not the other three genes, indicating the pathogenic role of GPR101 (14, 42). Activation of GPR101, an orphan Gs ...
As part of our mission, Dup15q Alliance seeks to unite families, researchers, and professionals; and promote research, awareness, and understanding of chromosome 15q11.2-13.1 duplication syndrome and related disorders. Dup15q Alliance formally endorses and funds research and collaborates with researchers interested in research on chromosome 15q duplications by disseminating research information and promoting opportunities for Dup15q Alliance families to participate in research studies.. ...
Xp 22.31 Duplication - Hi. I am looking for any information, stories, or support for genetic issues/duplications. I just found out that I have...
Background Previous reports indicate an association between autism spectrum disorders (ASD) and disorders of mitochondrial oxidative phosphorylation. One study suggested that children with both diagnoses are clinically indistinguishable from children with idiopathic autism. There are, however, no detailed analyses of the clinical and laboratory findings in a large cohort of these children. Therefore, we undertook a comprehensive review of patients with ASD and a mitochondrial disorder. Methodology/Principal Findings We reviewed medical records of 25 patients with a primary diagnosis of ASD by DSM-IV-TR criteria, later determined to have enzyme- or mutation-defined mitochondrial electron transport chain (ETC) dysfunction. Twenty-four of 25 patients had one or more major clinical abnormalities uncommon in idiopathic autism. Twenty-one patients had histories of significant non-neurological medical problems. Nineteen patients exhibited constitutional symptoms, especially excessive fatigability. Fifteen
PURPOSE: Mutations in murine and human versions of an ancestrally related gene usually result in similar phenotypes. However, interspecies differences exist, and in the case of two forkhead transcription factor genes (FOXC1 and FOXC2), these differences include corneal or anterior segment phenotypes, respectively. This study was undertaken to determine whether such discrepancies provide an opportunity for identifying novel human-murine ocular phenotypes. METHODS: Four pedigrees with early-onset glaucoma phenotypes secondary to segmental chromosomal duplications or deletions encompassing FOXC1 and 18 individuals from 9 FOXC2 mutation pedigrees underwent detailed ocular phenotyping. Subsequently, mice with mutations in Foxc1 or a related forkhead gene, Foxe3, were assessed for features of the human phenotypes. RESULTS: A significant increase in central corneal thickness was present in affected individuals from the segmental duplication pedigrees compared with their unaffected relatives (mean
GABAergic. Lets start out with a provocative statement. There is a single gene that may explain more cases of Lennox-Gastaut Syndrome (LGS) and Infantile Spasms (IS) than you would expect, rivalling SCN1A for the most common gene found in this group of patients. Its a gene that you are probably aware of but that you may think to be a very rare finding. In a recent publication in Annals of Neurology, the Epi4K consortium published their recent analysis of copy number variations that were derived from exome data. Combining de novo mutations and copy number variations points to GABRB3 as a major player in LGS and IS, explaining probably more than 2% of patients. Lets find out about the twilight zone, strategies to obtain structural variants from exomes, and the re-emergence of the 15q duplication syndrome. Continue reading →. ...
Article 1 Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder Sureni V Mullegama et al. The European Journal of Human Genetics (2013), 1-7 This article describes a new chromosome duplication syndrome, 2q23.1 duplication. This duplication includes the MBD5 gene, the same gene involved in the 2q23.1 deletion syndrome.…
Breakpoint characterization by 44K oligonucleotide array-CGH. a: 7.1 Mb deletion at 8p [arr 8p23.3p23.1(191,530-7,303,237)x1] and b: 30 Mb duplication at 15q
Microduplication of the region 7q11.23 critical for Williams-Beuren syndrome - diagnostic problems presented on the base of the case of an eleven-month-old girl ...
Lucky Dube - Prisoner Lyrics Lyrics: Somebody told me about it When I was still a little boy He said to me, crime does not pay He sai ...
Background: Genome-wide high resolution array analysis is becoming established as a diagnostic test in the investigation of individuals with learning disability and congenital anomalies; many novel microdeletion and microduplication syndromes have already been identified. The diagnostic use of high resolution array genomic hybridisation analysis for prenatal testing remains to be systematically assessed.. Methods: We studied 106 prenatal samples with abnormal ultrasound and a normal karyotype using the Affymetrix GeneChip 6.0 array. Rare DNA copy number variations (CNVs) were classified into three groups depending on their size, genomic location and the presence or absence of matched copy number changes in a large cohort of 3000 control samples analysed for copy number changes using genotyping arrays.. Results: A total of 35 rare CNVs were identified. 10 (9%) of these are considered likely to represent pathogenic CNVs; 5 were syndromic and 5 were novel. 12 CNVs were detected in at least one ...
There are at least 16 genes within the common overlapping region. A few of these genes are expressed in the central nervous system and/or likely to be dosage sensitive, or reported to be associated with disease by animal studies. These genes could be candidate genes for patients with deletion or duplication in this region.. The transcription factor gene (SP1) is most likely to be dosage sensitive (haploinsufficiency score: 0.81%) [DECIPHER]. The protein encoded by the SP1 gene is a zinc finger transcription factor that binds to GC-rich motifs of many promoters and is then involved in a variety of cellular processes such as cell growth, apoptosis, differentiation and immune responses, DNA damage response, and chromatin remodeling (provided by RefSeq, Nov 2014). The SP7 gene (haploinsufficiency score: 14.4%) encodes a bone specific transcription factor (osterix) which regulates osteogenesis and bone formation during embryonic development [8]. Niger et al. [9] reported that the activity of osterix ...
As part of our mission, Dup15q Alliance seeks to unite families, researchers, and professionals; and promote research, awareness, and understanding of chromosome 15q11.2-13.1 duplication syndrome and related disorders. Dup15q Alliance formally endorses and funds research and collaborates with researchers interested in research on chromosome 15q duplications by disseminating research information and promoting opportunities for Dup15q Alliance families to participate in research studies.. ...
3. There are genetic and epigenetic factors that can trigger autism. Shank mutations are responsible for idiopathic autism spectrum disorders (ASD) both in humans and in mice. This confirms an earlier study from 2006 in France where Shank 3 gene mutations were found in human autism cases. Recently research from Stanford University identified another genetic mutation, namely neuroligin-3 amino acid substitution and a neuroligin-3 deletion, which can be responsible for autism in mice. Epigenetic switches play an important role in the placenta, which according to research from the University of British Columbia, Vancouver/BC is likely the key for understanding autism. Another publication also stresses the importance of epigenetic switches in the development of autism. Stress during pregnancy can lead to changes in placental biochemical pathways, which causes prenatal epigenetic programming in the direction of autism. More research will be done regarding genetic causes of autism. However, it appears ...
Results Large duplications involving one complete domain or both domains are associated with either SRS or BWS, depending on the parental origin of the duplication. Genotype-phenotype correlation studies of partial duplications within the telomeric domain demonstrate the prominent role of IGF2, rather than H19, in the control of growth. Furthermore, it highlights the role of CDKN1C within the centromeric domain and suggests that the expected overexpression of KCNQ1OT1 from the paternal allele (in partial paternal duplications, excluding CDKN1C) does not affect the expression of CDKN1C. ...
We present a global comparison of differences in content of segmental duplication between human and chimpanzee, and determine that 33% of human duplications (| 94% sequence identity) are not duplicated in chimpanzee, including some human disease-causing duplications. Combining experimental and co …
Bradley has an exon 2 duplication. Im wondering what this will mean for his progression. Im thankful to say he is still walking at age 11. Sometimes I believ…
Background: Dysfunctions in the PI3K/mTOR pathway have gained a lot of attention in autism research. This was initially based on the discovery of several monogenic autism spectrum disorders with mutations or defects in PI3K/mTOR signaling components. Recent genetic studies corroborate that defective PI3K/mTOR signaling might be a shared pathomechanism in autism disorders of so far unknown etiology, but functional molecular analyses in human cells are rare. The goals of this study were to perform a functional screen of cell lines from patients with idiopathic autism for defects in PI3K/mTOR signaling, to test if further functional analyses are suitable to detect underlying molecular mechanisms, and to evaluate this approach as a biomarker tool to identify therapeutic targets. Methods: We performed phospho-S6- and S6-specific ELISA experiments on 21 lymphoblastoid cell lines from the AGRE collection and on 37 lymphoblastoid cell lines from the Simons Simplex Collection and their healthy siblings. ...
A few years ago, researchers reported that the Fragile X Mental Retardation (FMRP) pathway helps to regulate expression or activity of 93 genes linked with idiopathic autism [1, 2]. FMRP, within a complex of CYFIP1 and EIF4E, negatively regulates a wide range of protein translation. Interestingly, the Eukaryotic Initiation Factors (EIF) are a family of…
Dr. Pallav Dube is a Pediatrician in Charlimli, Bhopal. Book Appointment, Consult Online, View Doctor Fees, Contact Number, User Reviews and Ratings for Dr. Pallav Dube | Lybrate
An article titled 17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression has been published in the journal Molecular
An article titled 17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression has been published in the journal Molecular
Bonjour à tous Je viens de migrer mon serveur limesurvey 2.05+(140502) vers 2.05+ Build 140821 et tout semble sêtre plutôt bien passé à un détail prêt....
Chromosome 17q12 duplication syndrome is a protein in humans that is encoded by the DUP17Q12 gene. "Entrez Gene: Chromosome ... 17q12 duplication syndrome". Retrieved 2013-02-16. CS1 maint: discouraged parameter (link) v t e. ...
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 ...
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 genetic mutations: a duplication of the PMP22 gene that carries the ... study in French-Canadian population with Charcot-Marie-Tooth disease type 1A associated with 17p11.2 duplication" (PDF). The ...
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 ... GSPT2 MAGED1 Xp11.2 Duplication "Fragile X Syndrome - X-linked Mental Retardation and Macroorchidism". International Birth ...
"OMIM Entry - # 300705 - CHROMOSOME Xp11.22 DUPLICATION SYNDROME". omim.org. Retrieved 2019-04-16. "Specific Genetic Disorders ... The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the ... P - Point mutation, or any insertion/deletion entirely inside one gene D - Deletion of a gene or genes C - Whole chromosome ... extra, missing, or both (see chromosome abnormality) T - Trinucleotide repeat disorders: gene is extended in length CDKL5 ...
Chromosome Xq26.3 duplication syndrome. *Congenital generalized lipodystrophy type 1. *Congenital generalized lipodystrophy ...
"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 ...
"An anthropoid-specific segmental duplication on human chromosome 1q22". Genomics. 88 (2): 143-51. doi:10.1016/j.ygeno.2006.02. ... May 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. Bibcode:2006Natur. ...
December 2004). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. doi:10.1038/ ... 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 ...
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 ...
... 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 ...
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. ...
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. " ...
April 2008). "Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome". American Journal of Medical ...
2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. doi:10.1038/nature03187 ...
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. doi:10.1038/nature03187 ... 1996). "Assignment of the human ATBF1 transcription factor gene to chromosome 16q22.3-q23.1". Genomics. 29 (2): 552-3. doi: ...
2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. doi:10.1038/nature03187 ... 2001). "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16". Hum. ...
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 ...
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 ... This gene is found on the minus strand of the chromosome. There are no known isoforms. TMEM8A is also known as Transmembrane ... Both of these paralogs are found on Chromosome 9. The ortholog space of TMEM8A is fairly narrow, with the majority of orthologs ...
2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. doi:10.1038/nature03187 ... "cDNA cloning of a human RAB26-related gene encoding a Ras-like GTP-binding protein on chromosome 16p13.3 region". J Hum Genet. ...
2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-994. doi:10.1038/ ... "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q". Genomics. 60 (3): 295-308. ...
2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. doi:10.1038/nature03187 ... 2001). "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16". Hum. ... 2001). "The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human ...
1999). "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q". Genomics. 60 (3): ... This gene is one of three highly similar genes in a region of duplication located on the p arm of chromosome 16. These three ... 2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. doi:10.1038/nature03187 ... Maps to Chromosome 16p13.1". Genome Res. 7 (8): 830-4. doi:10.1101/gr.7.8.830. PMC 310666. PMID 9267806. Matoba R, Okubo K, ...
2004). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. doi:10.1038/nature03187 ... The gene is part of a cluster of serine protease genes on chromosome 16. tryptase ENSG00000282937 GRCh38: Ensembl release 89: ... a new member of the chromosome 16p13.3 family of human serine proteases expressed in airway epithelial cells". J. Biol. Chem. ...
2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. doi:10.1038/nature03187 ... 2001). "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16". Hum. ... 1997). "The relationship between chromosome structure and function at a human telomeric region". Nat. Genet. 15 (3): 252-7. doi ...
Chromosome duplication allows orderly meiosis and so viable seed can be produced. Plant hybrids are generally given names that ... For example, donkeys have 62 chromosomes, horses have 64 chromosomes, and mules or hinnies have 63 chromosomes. Mules, hinnies ... Sterility in a non-polyploid hybrid is often a result of chromosome number; if parents are of differing chromosome pair number ... A structural hybrid results from the fusion of gametes that have differing structure in at least one chromosome, as a result of ...
13.1 duplication syndrome specific groups only provide medical information and research for chromosome 15q11.2-13.1 duplication ... This is a neurodevelopmental disorder, caused by the partial duplication of Chromosome 15, that confers a strong risk for ... Dup15q syndrome is the common name for chromosome 15q11.2-q13.1 duplication syndrome. ... Two duplication types are commonly described in Dup15q syndrome, interstitial and isodicentric. Interstitial duplications are ...
30 March 2006). "Analysis of the DNA sequence and duplication history of human chromosome 15". Nature. 440 (7084): 671-675. ... Hood directed the Human Genome Center's sequencing of portions of human chromosomes 14 and 15. At the University of Washington ... 15 February 2001). "A physical map of human chromosome 14". Nature. 409 (6822): 947-948. Bibcode:2001Natur.409..947B. doi: ... 1 January 2003). "The DNA sequence and analysis of human chromosome 14". Nature. 421 (6923): 601-607. Bibcode:2003Natur.421.. ...
"A molecularly defined duplication set for the X chromosome of Drosophila melanogaster". Genetics. 186 (4): 1111-25. doi:10.1534 ... which led to the generation of a collection of flies carrying molecularly defined duplications for more than 90% of the ... Drosophila X-chromosome. Hundreds of Drosophila researchers utilize this collection. Most recently his lab created a new ...
Sutcliffe JS, Han MK, Amin T, Kesterson RA, Nurmi EL (2003). "Partial duplication of the APBA2 gene in chromosome 15q13 ...
大多數人類基因擁有許多的外顯子,且人類的內含子比位在其兩端的外顯子更長。這些基因參差不齊地分佈在染色體中,每一個染色體皆含有一些基因較多的區段與基因較少的區段。這些區段的差異,則與染色體帶(chromosome bands)及GC含量相關。基因密度所顯現 ... duplication),以及複雜多位置變
This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it. ... Another locus encoding a bipartite transcript designated POMZP3 contains a duplication of the last four exons of ZP3, including ...
According to this model, new genes are created by non-adaptive processes, such as by random gene duplication. These novel ...
The chromosomes can be seen in blue. The chromosome that is labeled with green and red spots (upper left) is the one where the ... FISH in a parallel manner with the comparison of the hybridization strength to recall any major disruptions in the duplication ... Then, an interphase or metaphase chromosome preparation is produced. The chromosomes are firmly attached to a substrate, ... Probes that hybridize along an entire chromosome are used to count the number of a certain chromosome, show translocations, or ...
2004). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. doi:10.1038/nature03187 ... Chromosome 16 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... "Chromosome 16". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 16". Human Genome Project Information Archive ... "Chromosome 16: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19.. ...
Chromosome condensation[edit]. Phosphorylation of H3 at serine 10 (phospho-H3S10). The mitotic kinase aurora B phosphorylates ... The first step of chromatin structure duplication is the synthesis of histone proteins: H1, H2A, H2B, H3, H4. These proteins ... Rizzo PJ (Aug 2003). "Those amazing dinoflagellate chromosomes". Cell Research. 13 (4): 215-7. doi:10.1038/sj.cr.7290166. PMID ... Without histones, the unwound DNA in chromosomes would be very long (a length to width ratio of more than 10 million to 1 in ...
選擇可以作用在基因而非個體的層級,即使降低個體的適應度,自私DNA仍然可以演化,造成基因組內部衝突。例子包括跳躍子、減數分裂驅動者(meiotic drivers)、殺手X染色體(killer X chromosomes)、自私粒線體(selfish ... A. Meyer (Editor), Y. van de Peer, "Genome Evolution: Gene and Genome Duplications and the Origin of Novel Gene Functions", ... Thomas Jr, C. A. The genetic organization of chromosomes (PDF). Annual review of genetics. 1971, 5 (1): 237-256. (原始内容
Reams, AB; Roth, JR (2 February 2015). "Mechanisms of gene duplication and amplification.". Cold Spring Harbor perspectives in ... "Three-Dimensional Maps of All Chromosomes in Human Male Fibroblast Nuclei and Prometaphase Rosettes". PLoS Biology 3 (5): e157 ... Treangen, TJ; Rocha, EP (27 January 2011). "Horizontal transfer, not duplication, drives the expansion of protein families in ...
... called 46/47 XY/XXY mosaic wherein some of the patient's cells contain XY chromosomes, and some contain XXY chromosomes. The 46 ... 1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome *1. *Wolf-Hirschhorn syndrome *4 ... where a fly possessing two X chromosomes is a female and a fly possessing a single X chromosome is a sterile male, a loss of an ... This may be caused by a nondisjunction event in an early mitosis, resulting in a loss of a chromosome from some trisomic cells. ...
... duplication of the elastic layer. The changes in small arterioles include hyaline arteriolosclerosis (deposition of hyaline, ... by identifying ApoL1 gene variants on chromosome 22.[12] ...
Haldane was also the first to construct human gene maps for haemophilia and colour blindness on the X chromosome and he was one ... duplication) of cells in the cell cycle.[253] ... in 1933 for discoveries relating the role the chromosome plays ... The Nobel Prize-winning geneticist and stringent atheist Thomas Hunt Morgan was developing the chromosome theory of heredity by ...
Chromosome *Linear. *Circular. *Extrachromosomal DNA. *Genome *Gene. *Gene duplication. *Non-coding DNA ...
"OMIM Entry - # 158170 - CHROMOSOME 9p DELETION SYNDROME". www.omim.org. Retrieved 2017-03-10.. ... 1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome *1. *Wolf-Hirschhorn syndrome *4 ... of a portion of chromosome 9. Symptoms include microgenitalia, intellectual disability with microcephaly and dysmorphic ...
European Chromosome 11 Network - Support group for patients with chromosome 11 disorders, their families and relatives ... 1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome *1. *Wolf-Hirschhorn syndrome *4 ... Ring chromosome 11- in this case genetic material from both long and short arm of the chromosome get deleted, and the remaining ... The affected children have deletions on chromosome 11 as well as some extra genetic material from another chromosome.[13] ...
Cytogenetic testing is the study of chromosomes to detect gains or losses of chromosomes or chromosome segments using ... Deletion/duplication analysis identifies mutations in the TWIST1 gene that are not readily detected by sequence analysis. ... The mouse TWIST gene is located on chromosome 12 in mice, which corresponds to the short arm of chromosome 7 in humans. With ... Occasionally, individuals with SCS have a chromosome translocation, inversion, or ring chromosome 7 involving 7p21 resulting in ...
1996). "Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene". Nat. Genet. 14 (2): ... region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman ... SNRPN-methylation is used to detect uniparental disomy of chromosome 15.[6] After fluorescent-in-situ-hybridization has ... Färber C, Dittrich B, Buiting K, Horsthemke B (1999). "The chromosome 15 imprinting centre (IC) ...
Examples of chromosome abnormalities include aneuploidy, chromosomal rearrangements, and genomic deletion/duplication disorders ... Chromosome studies[edit]. Chromosome studies are used in the general genetics clinic to determine a cause for developmental ... Chromosome painting is a technique that uses fluorescent probes specific for each chromosome to differentially label each ... A large number of different methods have been developed for chromosome analysis:. *Chromosome analysis using a karyotype ...
"The Evolution of Trichromatic Color Vision by Opsin Gene Duplication in New World and Old World Primates" (PDF). Genome ...
The amplification of chromosome 4q12, the site of the PDGFRA gene[citation needed], has been identified in 13-29% of adult ... "Tandem duplication of the FLT3 gene is found in acute lymphoblastic leukaemia as well as acute myeloid leukaemia but not in ... genes on chromosome 4, and also overexpress PDGFRα, was sensitive to crenolanib with an IC50 of ~80 nM. In CHO cells expressing ... "Internal tandem duplication of the FLT3 gene is preferentially seen in acute myeloid leukemia and myelodysplastic syndrome ...
... is a chromosomal condition related to low copy repeats of specific segments of chromosome 17.[5] Most ... "Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion". ... It is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17 and is sometimes called ... SMS is usually confirmed by blood tests called chromosome (cytogenetic) analysis and utilize a technique called FISH ( ...
... and is unlikely to falsely identify interesting regions of a chromosome if only the greatest outliers are reported. ...
This occurs during the S phase of interphase.[27] Chromosome duplication results in two identical sister chromatids bound ... Condensing chromosomes. Interphase nucleus (left), condensing chromosomes (middle) and condensed chromosomes (right). ... While in bacterial cell division, after duplication of DNA, two circular chromosomes are attached to a special region of the ... In this stage, chromosomes are long, thin and thread-like. Each chromosome has two chromatids. The two chromatids are joined at ...
Based on an extensive search on the complete sequences of human chromosomes 21 and 22, DNA regions greater than 500 bp were ... which aids in the final stages of DNA proofreading after duplication. However, over time methylated cytosines tend to turn into ... "Comprehensive analysis of CpG islands in human chromosomes 21 and 22". Proc Natl Acad Sci USA. 99 (6): 3740-5. doi:10.1073/ ...
8,0 8,1 8,2 8,3 8,4 «Chromosome 22q11.2 Deletion Syndrome - NORD (National Organization for Rare Disorders)»։ NORD (National ... Firth HV (February 17, 2009)։ «22q11.2 Duplication»։ GeneReviews։ PMID 20301749։ NBK3823 ,veditors=. պարամետրը գոյություն չունի ... Seizures as the first manifestation of chromosome 22q11.2 deletion syndrome in a 40-year old man: a case report»։ J Med Case ... A common molecular basis for rearrangement disorders on chromosome 22q11.»։ Hum Mol Genet 8 (7): 1157-67։ 1999։ PMID 10369860։ ...
The large renal arteries exhibit intimal thickening, medial hypertrophy, duplication of the elastic layer. The changes in small ... by identifying ApoL1 gene variants on chromosome 22. The aim of the medical treatment is to slow the progression of chronic ...
In evolution, this chromosome has lost most of its content and also most of its genes, while the X chromosome is similar to the ... Gene duplication allows diversification by providing redundancy: one gene can mutate and lose its original function without ... During crossover, chromosomes exchange stretches of DNA, effectively shuffling the gene alleles between the chromosomes.[59] ... Chromosomes are copied, condensed, and organized. Then, as the cell divides, chromosome copies separate into the daughter cells ...
Chromosomal disorders involve the loss or duplication of larger portions of a chromosome (or an entire chromosome) containing ... Some conditions result from deletions or abnormalities of a few genes located contiguously on a chromosome. ...
Jul 1994). "Olfactory receptor gene cluster on human chromosome 17: possible duplication of an ancestral receptor repertoire". ...
All of subgroup 2 is organized into a head to tail cluster of chromosomes on chromosome 17q24. Genes in this second subgroup ... ABC2 exporters evolved by intragenic duplication of a 3 TMS precursor, and ABC3 exporters evolved from a 4 TMS precursor which ... Also, the ABCA4 maps to a region of chromosome 1p21 that contains the gene for Stargardt's disease. This gene is found to be ... The first subgroup consists of seven genes that map to six different chromosomes. These are ABCA1, ABCA2, ABCA3, and ABCA4, ...
Furthermore, the sequence of these control genes show co-linearity: the order of the loci in the chromosome parallels the order ... This suggests the complex itself arose by gene duplication.[5][6][7] ...
Find chromosome duplication information, treatments for chromosome duplication and chromosome duplication symptoms. ... MedHelps chromosome duplication Center for Information, Symptoms, Resources, Treatments and Tools for chromosome duplication. ... Posts on chromosome duplication. duplication of7q21.13 {large 1.68 -1.73mb} and deletion of 6p25.1 {large 208.45 - 240.91kb} - ... my son has a duplication on his 3q29 chromosome does that mean he is mentally retarded as h... ...
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 ( ...
Duplication of chromosomes definition at Dictionary.com, a free online dictionary with pronunciation, synonyms and translation ... The occurrence of a repeated section of genes in a chromosome.. .css-grsm00{display:none;position:absolute;bottom:0px;height: ...
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, ... "Chromosome 2q31.1 associates with ESRD in women with type 1 diabetes". J. Am. Soc. Nephrol. 24 (10): 1537-43. doi:10.1681/ASN. ...
5 patients with chromosome 3p duplication experience fatigue, depressed mood, pain, anxious mood, and insomnia. ... Find the most comprehensive real-world symptom and treatment data on chromosome 3p duplication at PatientsLikeMe. ... 0 chromosome 3p duplication patients report severe pain (0%). * 0 chromosome 3p duplication patients report moderate pain (0%) ... What is chromosome 3p duplication?. Chromosome 3p duplication is a rare chromosomal abnormality. Signs and symptoms of the ...
Gene Duplication, Gene Conversion and the Evolution of the Y Chromosome Message Subject (Your Name) has forwarded a page to you ... Gene Duplication, Gene Conversion and the Evolution of the Y Chromosome. Tim Connallon and Andrew G. Clark ... Gene Duplication, Gene Conversion and the Evolution of the Y Chromosome. Tim Connallon and Andrew G. Clark ... Gene Duplication, Gene Conversion and the Evolution of the Y Chromosome. Tim Connallon and Andrew G. Clark ...
Overview of the molecularly defined X-chromosome duplication kit. The hash marked line of the X chromosome at the top of A, B, ... The transgenic flies are currently available as the "Duplication Consortium X Chromosome" Duplications from the Bloomington ... an X chromosome fragment on the Y chromosome [Dp(1;Y)], an autosome [Dp(1;A)], or a free duplication [Dp(1;f)] (Lindsley and Z ... In all five cases, larger duplications encompassing the Duplication Consortium (DC) duplications do not exhibit an effect on ...
... and the correct diagnosis for Chromosome 11p partial duplication signs or Chromosome 11p partial duplication symptoms. ... Signs of Chromosome 11p partial duplication including medical signs and symptoms of Chromosome 11p partial duplication, ... Symptoms of Chromosome 11p partial duplication *Medical articles Symptoms of Chromosome 11p partial duplication. The list of ... Associated conditions for Chromosome 11p partial duplication *Risk factors for Chromosome 11p partial duplication * Related ...
Chromosome Loss Followed by Duplication Is the Major Mechanism of Spontaneous Mating-Type Locus Homozygosis in Candida albicans ... Chromosome Loss Followed by Duplication Is the Major Mechanism of Spontaneous Mating-Type Locus Homozygosis in Candida albicans ... Chromosome Loss Followed by Duplication Is the Major Mechanism of Spontaneous Mating-Type Locus Homozygosis in Candida albicans ... Chromosome Loss Followed by Duplication Is the Major Mechanism of Spontaneous Mating-Type Locus Homozygosis in Candida albicans ...
Analysis of mouse conceptuses with uniparental duplication/deficiency for distal chromosome 12: comparison with chromosome 12 ... Citation: Han L, Szabó PE, Mann JR (2010) Postnatal Survival of Mice with Maternal Duplication of Distal Chromosome 7 Induced ... McLaughlin KJ, Szabó P, Haegel H, Mann JR (1996) Mouse embryos with paternal duplication of an imprinted chromosome 7 region ... Maternal duplication of twelve Chr regions results in developmental anomalies. Only three of these are associated with peri- or ...
Real Time PCR and FISH demonstrated tandem duplication/multiplication of the SRY and DAZ genes. At sequence level, the SRY was ... Of the two TS patients having intact Y chromosome in ,85% cells, one was exceptionally tall. Both the patients were positive ... In the present study, we have analyzed the Y chromosome in 15 clinically diagnosed Turner Syndrome (TS) patients and detected ... Presence of the human Y-chromosome in females with Turner Syndrome (TS) enhances the risk of development of gonadoblastoma ...
Here we present the results of analysis of 11.8 Mb of genomic sequence from chromosome 16. The apparent gene density varies ... Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q Genomics. 1999 Sep 15;60(3): ... Such duplications have implications for mapping and gene analysis as well as the predisposition to recurrent chromosomal ... Here we present the results of analysis of 11.8 Mb of genomic sequence from chromosome 16. The apparent gene density varies ...
... resources and questions answered by our Genetic and Rare Diseases Information Specialists for Chromosome 8q duplication ... Chromosome 8q duplication Title Other Names:. Duplication 8q; Trisomy 8q; 8q duplication; Duplication 8q; Trisomy 8q; 8q ... 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 ...
Chromosome 5q duplication syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories ... Chromosome 5q duplication syndrome *What is Chromosome 5q duplication syndrome? *Causes of Chromosome 5q duplication syndrome * ... Symptoms of Chromosome 5q duplication syndrome *Signs of Chromosome 5q duplication syndrome *Treatments for Chromosome 5q ... Chromosome 5q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which ...
Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis Message subject: (Your Name) has forwarded a ...
Replication of chromosome 16p11.2 duplications in AIS. Two replication cohorts were assayed for chromosome 16p11.2 duplications ... Locations of distal chromosome 16p11.2 duplications. Legend: locations of distal chromosome 16p11.2 duplications containing ... Conclusions Recurrent distal chromosome 16p11.2 duplications explain nearly 1% of AIS. Distal chromosome 16p11.2 duplications ... The mean body mass index (BMI) of cases with the chromosome 16p11.2 duplication was lower than those without the duplication ...
... ... In patients with no duplication/triplication of the 1p36.22p36.21 region and no mutations inTWIST2, there are mutation(s) in ... Chromosomal microarray analyses revealed unique copy number variants of 1p36 in two individuals with duplications at 1p36.22 ... The fourth patient had normal chromosomes by microarray analysis. All four patients had normalTWIST2exonic sequences. We ...
Interchromosomal Duplications on the Bactrocera oleae Y Chromosome Imply a Distinct Evolutionary Origin of the Sex Chromosomes ... Interchromosomal duplications on the Bactrocera oleae Y chromosome imply a distinct evolutionary origin of the sex chromosomes ... Figure 3 The B. oleae Y chromosome contains large interchromosomal duplications harbouring importin-4 gene fragments. A) PCR ... Chromosome Duplication / genetics*. Drosophila / genetics*. Electrophoresis, Agar Gel. Evolution, Molecular*. Female. Gene ...
is a duplication of chromosome 31 (in L. mexicana, a fusion event joined chromosomes 8 and 29 and as a result the homologue of ... mexicana chromosome 30 was duplicated in the T. brucei clade to form parts of chromosomes 4 and 8, providing opportunities for ... mexicana chromosome 30 is the homologue of chromosome 31 in other Leishmania spp., which has been shown to be supernumerary ( ... Furthermore we reveal that an ancient chromosome duplication shared by all Leishmania species may have contributed to the ...
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of ... FISH analysis in some of these cases demonstrated that the duplication was inverted. Thus these ring chromosomes derived ... FISH analysis in some of these cases demonstrated that the duplication was inverted. Thus these ring chromosomes derived ... DISCUSSION: Inv dup del rearrangements have been reported for several chromosomes, but hardly ever in ring chromosomes. Our ...
Triallelic patterns in STR loci used for paternity analysis: evidence for a duplication in chromosome 2 containing the TPOX STR ...
... Common Name(s). Chromosome 9 Inversion or Duplication, Chromosome 9 inversion ... "Chromosome 9 Inversion or Duplication" (open studies are recruiting volunteers) and 0 "Chromosome 9 Inversion or Duplication" ... Humans have 23 pairs of chromosomes, which means that each human cell contains 46 chromosomes. Each chromosome has a p and q ... The terms "Chromosome 9 Inversion or Duplication" returned 0 free, full-text research articles on human participants. ...
Duplication, Chromosome. On-line free medical diagnosis assistant. Ranked list of possible diseases from either several ...
Five or 6 chromosomes of the complement have segments typically late in duplication. Two of these are the X and Y chromosomes. ... Asynchronous Duplication of Chromosomes in Cultured Cells of Chinese Hamster J. Herbert Taylor J. Herbert Taylor ... Chromosome duplication (DNA synthesis) was studied in cultured cells of Chinese hamsters by means of autoradiography following ... The chromosomes labeled during the contact period retained their precise pattern of labeling through another duplication cycle ...
... Common Name(s). Chromosome 2p Duplication, Chromosome 2 Duplication Disease, Two Duplication ... Syndrome, 2 Duplication Syndrome, Chromosome Two Duplication Syndrome, Chromosome 2 Duplication, Chromosome Two Duplication ... "Chromosome 2p Duplication" (open studies are recruiting volunteers) and 0 "Chromosome 2p Duplication" studies with "all" status ... 2p duplications fall into a category of chromosome disorders in which a segment of chromosome 2 is duplicated or copied. This ...
Duplication of the Distal Long Arm of Chromosome 15: Report of Three New Patients and Review of the Literature. ... Fingerprint Dive into the research topics of Duplication of the Distal Long Arm of Chromosome 15: Report of Three New Patients ...
NIH Rare Diseases : 52 Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of ... MalaCards integrated aliases for Chromosome 4q Duplication:. Name: Chromosome 4q Duplication 52 ... MalaCards based summary : Chromosome 4q Duplication, also known as chromosome 4, trisomy 4q, is related to partial trisomy ... MalaCards organs/tissues related to Chromosome 4q Duplication:. 40 Heart, T Cells, Liver, Skin ...
MalaCards integrated aliases for Chromosome 5p13 Duplication Syndrome:. Name: Chromosome 5p13 Duplication Syndrome 57 12 29 13 ... Chromosome 5p13 Duplication Syndrome. Genetic Locus. 508.59. Structural variation 57 GeneCards inferred via :. Gene name (show ... Pathways related to Chromosome 5p13 Duplication Syndrome according to GeneCards Suite gene sharing:. #. Super pathways. Score. ... Human phenotypes related to Chromosome 5p13 Duplication Syndrome:. 32 (show all 37) #. Description. HPO Frequency. HPO Source ...
title = "Inverted duplication of chromosome 5p14p15.3 confirmed with in situ hybridization",. abstract = "Duplication of the ... Inverted duplication of chromosome 5p14p15.3 confirmed with in situ hybridization. J. L. Zenger-Hain, D. L. Van Dyke, A. Wiktor ... Inverted duplication of chromosome 5p14p15.3 confirmed with in situ hybridization. / Zenger-Hain, J. L.; Van Dyke, D. L.; ... Inverted duplication of chromosome 5p14p15.3 confirmed with in situ hybridization. American journal of medical genetics. 1993 ...
On the Increase of Sites for Chromosome Exchange Formation after Chromosome Duplication ... On the Increase of Sites for Chromosome Exchange Formation after Chromosome Duplication ... On the Increase of Sites for Chromosome Exchange Formation after Chromosome Duplication ... On the Increase of Sites for Chromosome Exchange Formation after Chromosome Duplication ...
  • Chromosome 2q31.1 duplication syndrome is a protein that in humans is encoded by the DUP2Q31.1 gene. (wikipedia.org)
  • More detailed information about the symptoms , causes , and treatments of Chromosome 5q duplication syndrome is available below. (rightdiagnosis.com)
  • A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. (rightdiagnosis.com)
  • Chromosome 5p13 Duplication Syndrome, also known as 5p13 microduplication syndrome , is related to attention deficit-hyperactivity disorder , and has symptoms including sleep disturbances An important gene associated with Chromosome 5p13 Duplication Syndrome is DUP5P13 (Chromosome 5p13 Duplication Syndrome), and among its related pathways/superpathways is Neural Stem Cell Differentiation Pathways and Lineage-specific Markers . (malacards.org)
  • Clinical variability of the 22q11.2 duplication syndrome. (medlineplus.gov)
  • Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism. (mendelian.co)
  • Xq27.3q28 Duplication Syndrome Is also known as trisomy xq27.3q28, dup(x)(q27.3q28), xq27.3-q28 microduplication syndrome, trisomy xq27.3-q28. (mendelian.co)
  • HEALTH AND HUMAN SCIENCES Duplication Syndrome 0 Angelman Syndrome 0 0 Student researchers: Colleen Sheehy and Anne Nanninga , Juniors - Several types of copy number variants, or a surplus or absence of genetic information encoded by DNA, appear in the 11.2-13.1 region of chromosome 15. (paperity.org)
  • Chromosome 15q11.2-13.1 duplication syndrome (dup15q) is caused by duplications of chromosome 15q11.2-13.1. (paperity.org)
  • Angelman syndrome derives from a deletion of the mother's genetic contribution from the 11.2-13.1 region of chromosome 15. (paperity.org)
  • DUP16P11.2 (Chromosome 16p11.2 Duplication Syndrome) is a Genetic Locus. (genecards.org)
  • Diseases associated with DUP16P11.2 include Chromosome 16P11.2 Duplication Syndrome and 16P11.2 Duplication . (genecards.org)
  • A report of pure 7p duplication syndrome and review of the literature. (cdc.gov)
  • Most research into the duplication syndrome has been focused on the isodicentric form, probably because these children have more severe symptoms and their parents are more likely to seek out specialist care. (spectrumnews.org)
  • DUPXP11.23P11.22 (Chromosome Xp11.23-P11.22 Duplication Syndrome) is a Genetic Locus. (genecards.org)
  • Diseases associated with DUPXP11.23P11.22 include Chromosome Xp11.23-P11.22 Duplication Syndrome . (genecards.org)
  • For the past twenty-two years, Dup15q Alliance has provided family support and promoted awareness, research and targeted treatments for chromosome 15q11.2-13.1 duplication syndrome. (dup15q.org)
  • and promote research, awareness, and understanding of chromosome 15q11.2-13.1 duplication syndrome and related disorders. (dup15q.org)
  • The literature reported several structural anomalies of X chromosome and they influence the female reproductive capacity or are associated to Turner syndrome in the presence of monosomy X cell line. (biomedcentral.com)
  • 22q11.2 duplication syndrome is a condition caused by an extra copy of a small piece of chromosome 22 which contains about 30 to 40 genes . (nih.gov)
  • The absence of severe anomalies such as cardiac and cerebral defects, observed so far in all large 5p duplications, and the comparison to previous cases described both in literature and in DECIPHER database suggest that the critical region for the severe phenotype in 5p duplication syndrome might be smaller than that previously described, excluding half of the 5p13 band. (elsevier.com)
  • 16p11.2 deletion syndrome is caused by a deletion of about 600,000 base pairs, also written as 600 kilobases (kb), at position 11.2 on the short (p) arm of chromosome 16. (nih.gov)
  • A 16p11.2 duplication is an extra copy of the same 600 kb segment of chromosome 16 that is missing in 16p11.2 deletion syndrome (described above). (nih.gov)
  • The second most common form of CMT1 (CMT1B) and some cases of Déjerine-Sottas syndrome were found to be associated with mutations in the myelin protein zero ( MPZ ) gene on chromosome 1. (medscape.com)
  • My daughter has deletion 22q chromosome syndrome. (healthtap.com)
  • Could be myelodysplastic syndrome with fanconi's anemia , or one of several other aberrations that may arise from chromosome 7 abnormalities. (healthtap.com)
  • Chromosome 4q Duplication, also known as chromosome 4, trisomy 4q , is related to partial trisomy distal 4q and microcephaly . (malacards.org)
  • Chromosomal abnormalities of the bile duct epithelium, particularly trisomy 7 (i.e. three copies of chromosome 7) can be detected in biliary epithelial samples obtained by endoscopic retrograde cholangiopancreatography (ERCP) in PSC patients. (clinicaltrials.gov)
  • I have a granddaughter that is 9 months old and we just found out that she has Partial Trisomy 4 / 4q 32.3-35.2 duplication. (circleofmoms.com)
  • Chromosome 15, Distal Trisomy 15q is an extremely rare chromosomal disorder in which the end (distal) portion of the long arm (q) of the 15th chromosome (15q) appears three times (trisomy) rather than twice in cells of the body. (rarediseases.org)
  • In most cases, Chromosome 15, Distal Trisomy 15q is due to a chromosomal balanced translocation in one of the parents. (rarediseases.org)
  • In individuals with Chromosome 15, Distal Trisomy 15q, an extremely rare chromosomal disorder, the end (distal) portion of the long arm (q) of chromosome 15 (15q) is duplicated (trisomic). (rarediseases.org)
  • Most infants with Chromosome 15, Distal Trisomy 15q also exhibit abnormally diminished muscle tone (hypotonia). (rarediseases.org)
  • THE X chromosome of Drosophila melanogaster contains ∼2300 protein-coding genes or ∼15% of such genes in the genome. (genetics.org)
  • The East Asia 1 species has the single circular chromosome common to animals while the South Asia 1 species has a genome consisting of two circular chromosomes. (biomedcentral.com)
  • The fragmented South Asia 1 genome exhibits extreme chromosome size asymmetry with the majority of genes on the large, 14.28 kb, chromosome and only nad6 and trnC on the 0.92 kb mini-circle chromosome. (biomedcentral.com)
  • This genome also features paralogous control regions with high similarity suggesting a very recent origin of the nad6 mini-circle chromosome in the South Asia 1 cryptic species. (biomedcentral.com)
  • From these experiments, it was concluded that EA1 has a traditional single chromosome mitochondrial genome, while SA1 has a fragmented genome consisting of two chromosomes. (biomedcentral.com)
  • Subsequent scaffolding of the NGS contigs of provisional mitochondrial origin yielded a completed circular mitochondrial chromosome for EA1, but we were unable to circularize the SA1 genome using NGS data and instead inferred a single large chromosome by placing two short gap fillers consisting of EA1 sequence (lengths 20 and 37 bp) into the inferred single SA1 chromosome prior to capillary sequencing validation. (biomedcentral.com)
  • The lane 4 PCR reaction should only have yielded a product if the genome was fragmented with nad6 on a second mini-loop chromosome. (biomedcentral.com)
  • Chromosome duplication occurs when any part of the genetic material - A single locus or a large piece of a chromosome is present more than once in a genome. (botanystudies.com)
  • Garfunkel, therefore, has both a duplication and a deletion of parts of his genome in the specified chromosomal region. (paperity.org)
  • One type of duplication occurs when the RNA transcript of a gene is "reverse transcribed" back into a DNA sequence and reinserted elsewhere in the genome (a process called retroposition), leading to a new, possibly functional copy of the gene in a new location and subject to different regulatory systems. (jrank.org)
  • Duplication of much larger portions of a genome is also possible, including whole chromosomes (called chromosomal aberrations) and even the entire genome (called polyploidy). (jrank.org)
  • While gene duplication is a rare event in the short term, it is frequent enough in the long term to have been a central feature in the evolution of the genome of eukaryotic organisms. (jrank.org)
  • Cytogenetic analyses with the Affymetrix Genome-Wide Human SNP Array 6.0 identified a chromosome 13q34 duplication in a 36 year-old female with global developmental delay, facial dysmorphism, tall stature, breast cancer and dystonia, and her neurologically-normal father. (biomedcentral.com)
  • Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction ). (wikipedia.org)
  • Gene duplication has played an important role in the history of the human genome and the genomes of ancestors. (pnas.org)
  • In order to address the role of genome architecture and chromosome scale structural variation in generating diversity of SMBGCs, we generated chromosome scale assemblies of six geographically diverse isolates of the insect pathogenic fungus Tolypocladium inflatum, producer of the multi-billion dollar lifesaving immunosuppressant drug cyclosporin, and utilized a Hi-C chromosome conformation capture approach to address the role of genome architecture and structural variation in generating intraspecific diversity in SMBGCs. (nih.gov)
  • This research places the evolution of SMBGCs within the context of whole genome evolution and suggests a role for recombination between chromosomes in generating novel SMBGCs in the medicinal fungus Tolypocladium inflatum. (nih.gov)
  • Earlier work by our lab suggested that several of the NPY receptor genes found in extant vertebrates resulted from two genome duplications before the origin of jawed vertebrates (gnathostomes) and one additional genome duplication in the actinopterygian lineage, based on their location on chromosomes sharing several gene families. (biomedcentral.com)
  • Eight gene families had complications that precluded analysis (such as short sequence length or variable number of repeated domains) and another eight families did not support block duplications (because the paralogs in these families seem to have originated in another time window than the proposed genome duplication events). (biomedcentral.com)
  • Results: We have determined and analyzed the complete sequences of two of its chromosomes, 11 and 12, which total 55.9 Mb (14.3% of the entire genome length), based on a set of overlapping clones. (cshl.edu)
  • A three-Mb segment on both chromosomes resulted from a duplication 7.7 million years ago (mya), the most recent large-scale duplication in the rice genome. (cshl.edu)
  • Conclusion: Because the resistance and defense response genes, enriched on these chromosomes relative to the whole genome, also occur in clusters, they provide a preferred target for breeding durable disease resistance in rice and the isolation of their allelic variants. (cshl.edu)
  • The recent duplication of a large chromosomal segment coupled with the high density of disease resistance gene clusters makes this the most recently evolved part of the rice genome. (cshl.edu)
  • Based on syntenic alignments of these chromosomes, rice chromosome 11 and 12 do not appear to have resulted from a single whole-genome duplication event as previously suggested. (cshl.edu)
  • Genome duplication followed by massive gene loss has permanently shaped the genomes of many higher eukaryotes, particularly angiosperms. (pnas.org)
  • It has long been believed that a primary advantage of genome duplication is the opportunity for the evolution of genes with new functions by modification of duplicated genes. (pnas.org)
  • Functional buffering may be especially important during "genomic turmoil" immediately after genome duplication but continues to act ≈60 million years later, and its gradual deterioration may contribute cyclicality to genome duplication in some lineages. (pnas.org)
  • Recent sequencing efforts have revealed that genome duplication, a punctuational event in the evolution of a lineage, is more common than previously suspected. (pnas.org)
  • Most higher organisms are thought to continuously produce aberrant unreduced gametes at low rates, but the rarity of genome duplication shows that the overwhelming majority do not survive. (pnas.org)
  • Segmental duplications (SDs) in the human genome trigger mutations such as structural rearrangements (duplications, deletions, inversions and translocations), thus playing a crucial role in human disease and genome evolution. (els.net)
  • Segmental duplications (SDs) create variability in human genome. (els.net)
  • Despite these dynamics, shared by all eukaryotes, each genome exhibits its own style of intrachromosomal duplication: the density of repeated elements is similar in all chromosomes issued from the same genome, but is different between species. (biomedsearch.com)
  • Chromosome 3p duplication is a rare chromosomal abnormality. (patientslikeme.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. (nih.gov)
  • Also, when I was eleven, doctors finally found an abnormality in my DNA, a significant deletion and duplication on chromosome 19. (awareofangels.org)
  • Chromosome 20p duplication is a rare chromosome abnormality that occurs when there is an extra copy (duplication) of genetic material on the short arm (p) of chromosome 20 . (cdc.gov)
  • [2] When a parent has one of these, there is an increased risk to have another child with a chromosome abnormality. (cdc.gov)
  • In these cases, it is unlikely the parents would have another child with a chromosome abnormality. (cdc.gov)
  • People with this chromosomal abnormality are missing a sequence of about 520,000 base pairs, also written as 520 kb, at position p12.2 on chromosome 16. (nih.gov)
  • For mothers of children diagnosed with a chromosome abnormality unique to them. (circleofmoms.com)
  • 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. (nih.gov)
  • 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. (nih.gov)
  • 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. (nih.gov)
  • A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material. (rightdiagnosis.com)
  • We investigated 33 different ring chromosomes in patients with phenotypic abnormalities by array based comparative genomic hybridisation (CGH) and fluorescence in situ hybridisation (FISH). (uzh.ch)
  • Duplication of the short arm of chromosome 5 [dup(5)(p13.1p15.3)] has been associated with craniofacial malformations, cardiac defects, renal and intestinal malformations, limb abnormalities, and mental retardation. (elsevier.com)
  • Some people with the duplication have no identified physical, intellectual, or behavioral abnormalities. (rareidnews.com)
  • Signs and symptoms that have been reported in people with chromosome 20p duplication include intellectual disability , developmental delay , speech delay, poor coordination, dental problems, spinal bone abnormalities, distinctive facial features, and heart problems. (cdc.gov)
  • We report a prenatal case of a large 5p duplication with sub-telomeric deletion in a foetus with very mild phenotypic abnormalities. (elsevier.com)
  • A small amount of missing genetic material on the p arm of chromosome 16 causes a condition called 16p12.2 microdeletion, which is associated with physical and developmental abnormalities in some affected individuals. (nih.gov)
  • I have been told my son has an abnormalities in the brain and delition of chromosome 2, what does it mean? (healthtap.com)
  • 2p duplications fall into a category of chromosome disorders in which a segment of chromosome 2 is duplicated or copied. (diseaseinfosearch.org)
  • Unique is a source of information and support to families and individuals affected by rare chromosome disorders. (cdc.gov)
  • Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed. (childrens.com)
  • Family Membership is open to those affected by a Rare Chromosome Disorder or certain Autosomal Dominant Single Gene Disorders causing as a minimum learning disability/developmental delay, among other symptoms. (rarechromo.org)
  • At Unique we are committed to supporting and connecting families living with rare chromosome and gene disorders! (rarechromo.org)
  • The findings suggest that duplications of 15q11-13 are the second most common large genetic alteration linked to autism after deletions or duplications of the 16p11.2 region. (spectrumnews.org)
  • Kids with chromosome deletions can have issues that mimic CP and some may suffer the same neurologic injury. (healthtap.com)
  • Rights & permissions for article Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era? (nature.com)
  • Its identification was aided by the repeated observation of the same pair of 150 kb long duplications present in cis on chromosome 21 in three Czech families subjected to microarray analysis. (biomedcentral.com)
  • The fourth patient had normal chromosomes by microarray analysis. (elsevier.com)
  • Genetics Home Reference (GHR) contains information on Chromosome 20p duplication. (cdc.gov)
  • Genetics Home Reference (GHR) contains information on Chromosome 7p duplication. (cdc.gov)
  • 200 publications in the last 10 years ( www.nslij-genetics.org/duplication ). (pnas.org)
  • Normal crossing over pairs up identical segments on homologous chromosomes, and then exchanges them. (jrank.org)
  • Non‐homologous chromosomes are coloured differently with the centromeres shown as black box. (els.net)
  • One should notice that the density of repeats in the X chromosome of C. elegans is much lower than in the autosomes of that organism, suggesting that the exchange between homologous chromosomes is important in the duplication process. (biomedsearch.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. (nih.gov)
  • Thus these ring chromosomes derived through a classical inv dup del rearrangement consisting of a deletion and an inverted duplication. (uzh.ch)
  • We report a case of chromosome X complex rearrangement found in a prenatal diagnosis. (biomedcentral.com)
  • We speculated that marker chromosome was the result of a double rearrangement: firstly, a paracentric inversion which involved the Xp arm, shifting a part of the centromere at the p end and subsequently a duplication of the entire X chromosome, which gave rise to an isochromosome. (biomedcentral.com)
  • 2010) Genomic segmental duplications on the basis of the t(9;22) rearrangement in chronic myeloid leukemia. (els.net)
  • Duplications generally arise by random chance (de novo), but also can be the result of inheriting a chromosome error from the parents. (diseaseinfosearch.org)
  • We report a 2-year-old white girl with a de novo 46,XX,inv dup(5)(p14p15.3) chromosome constitution, who presented with motor and language delays, bilateral strabismus, small posteriorly angulated ears, a high-arched palate, mild hypotonia, and an atrial septal defect. (elsevier.com)
  • Thus, this was a de novo mosaic full and partial monosomy of chr 21 in a case with SVC duplication. (researchsquare.com)
  • Fernandez-Torre JL, Otero B, Alvarez V, Hernando I, Fernandez-Toral J. De novo partial duplication of 17p associated with Charcot-Marie-Tooth disease type 1A. (medscape.com)
  • De novo duplication of 2q is very rare. (ac.ir)
  • We were able to demonstrate de novo occurrence of the duplication. (frontiersin.org)
  • In this report, we present a patient with CDH, mild facial dysmorphism, hepatomegaly, and a de novo chromosomal duplication of 11p15 including the imprinting control region 2 (ICR2, KCNQ1OT1 TSS DMR) and compare it to reported patients from the literature. (frontiersin.org)
  • We replicated this finding in two additional AIS cohorts (8/1097 and 2/433), resulting in 0.7% (18/2727) of all AIS cases harbouring a chromosome 16p11.2 microduplication, compared with 0.06% of local controls (1/1664) and 0.04% of published controls (8/19584) (p=2.28×10 −11 , OR=16.15). (bmj.com)
  • 1q21.1 microduplication is a chromosomal change in which a small amount of genetic material on chromosome 1 is abnormally copied (duplicated). (rareidnews.com)
  • The majority of those have been partial duplications (involving only part of the p arm) and have occurred as part of a translocation (along with a deletion on another chromosome). (cdc.gov)
  • Most cases of 2q duplications result from familial translocations, and are associated with simultaneous monosomy of another chromosome segment. (ac.ir)
  • In particular, studies indicate that individuals with a 16p12.2 microdeletion who have neurological or behavioral problems often have an additional, larger deletion or duplication affecting another chromosome. (nih.gov)
  • Features that have been described in some people with chromosome 4q duplication include developmental delay , intellectual disability , behavioral problems, birth defects , and distinctive facial features. (malacards.org)
  • Features that often occur in people with chromosome 7p duplication include developmental delay , intellectual disability , behavioral problems and distinctive facial features. (cdc.gov)
  • The work presented removes a long-standing barrier to genetic analysis of the Drosophila X chromosome, will greatly facilitate functional assays of X-linked genes in vivo , and provides a model for functional analyses of entire chromosomes in other species. (genetics.org)
  • Interchromosomal duplications on the Bactrocera oleae Y chromosome imply a distinct evolutionary origin of the sex chromosomes compared to Drosophila. (biomedsearch.com)
  • Conclusions Recurrent distal chromosome 16p11.2 duplications explain nearly 1% of AIS. (bmj.com)
  • Distal chromosome 16p11.2 duplications may contribute to scoliosis pathogenesis by directly impairing growth or by altering expression of nearby genes, such as TBX6 . (bmj.com)
  • As with other clonally inherited chromosomes, each evolutionary lineage of the Y is physically coupled to, and its evolutionary fate is influenced by, the presence of deleterious mutations. (genetics.org)
  • For this reason, the X chromosome has been well saturated for viable mutations. (genetics.org)
  • Moreover, mutations in essential genes and genes required for male fertility cannot be propagated and genetically characterized unless they are complemented with a duplication maintained in the male. (genetics.org)
  • Hence, the X chromosome has been significantly less studied than the autosomes for mutations in essential and male fertility genes. (genetics.org)
  • Mutations in essential and male fertility genes on the X chromosome can be mapped using a variety of techniques. (genetics.org)
  • Hence, a complete set of small molecularly defined duplications of the X chromosome would be extremely useful for identifying mutations in essential and male fertility genes and for fine-scale mapping of any mutation, including recessive viable mutations. (genetics.org)
  • As with alleles, gene duplication frees up a gene copy to accumulate mutations with less selective penalty. (jrank.org)
  • In patients with no duplication/triplication of the 1p36.22p36.21 region and no mutations in TWIST2, there are mutation(s) in one of the 30 genes in this region or mutations in other as yet unidentified genes at different locations that may affect the expressions of genes in this region or act independently to cause this developmental disease phenotype. (elsevier.com)
  • Most cases of chromosome 20p duplication have resulted from a healthy parent having a chromosomal balanced translocation or inversion (when a piece of a chromosome is facing the wrong direction). (cdc.gov)
  • Most people tested for the 22q11.2 duplication have come to medical attention as a result of developmental delay or other problems affecting themselves or a family member. (medlineplus.gov)
  • About 1 in 500 children referred for genetic testing for undefined developmental delay, intellectual disability or autism have duplications of the 15q11-13 chromosomal region, according to a new analysis. (spectrumnews.org)
  • Chromosome loss followed by duplication is the major mechanism of spontaneous mating-type locus homozygosis in Candida albicans. (nih.gov)
  • Candida albicans, which is diploid, possesses a single mating-type (MTL) locus on chromosome 5, which is normally heterozygous (a/alpha). (nih.gov)
  • Eighteen polymorphic (heterozygous) markers were identified on chromosome 5, 6 to the left and 12 to the right of the MTL locus. (nih.gov)
  • A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. (medscape.com)
  • Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. (medscape.com)
  • Gene duplications at the chemokine locus on mouse chromosome 4: multiple strain-specific haplotypes and the deletion of secondary lymphoid-organ chemokine and EBI-1 ligand chemokine genes in the plt mutation. (duke.edu)
  • Polymorphism at this locus is due to duplications of at least four genes, three of them encoding chemokines. (duke.edu)
  • Duplicative transposition (Duplication event 1) creates a copy of the ancestral locus (core duplicon, CD, in green) to a new locus on the same chromosome, thus generating an intrachromosomal duplication. (els.net)
  • A following event of duplicative transposition (Duplication event 2) involving the CD and flanking single sequences (empty orange squares) moves these regions to a new locus on a non‐homologous chromosome, thus creating interchromosomal duplications. (els.net)
  • The genetician has found a partial duplication of chromosome 2 on the short arm and. (circleofmoms.com)
  • Here we present the results of analysis of 11.8 Mb of genomic sequence from chromosome 16. (nih.gov)
  • BACKGROUND AND METHODS: Ring chromosomes are often associated with abnormal phenotypes because of loss of genomic material at one or both ends. (uzh.ch)
  • In particular, we demonstrate movement of a polyketide synthase (PKS) and several adjacent genes by translocation to a new chromosome and genomic context, potentially generating a novel PKS cluster. (nih.gov)
  • The chromosomal analysis revealed isolated 2q31.3q36.3 duplication, and array comparative genomic hybridisation (CGH) confirmed the diagnosis. (ac.ir)
  • Paralogous gene copies within this segmental duplication can be aligned with genomic assemblies from sorghum and maize. (cshl.edu)
  • Crossovers between Y-linked genes can generate acentric and dicentric Y chromosomes, resulting in infertility and disruption of the sex determination pathway ( e.g . (genetics.org)
  • Furthermore, fragility figures were found in 56% of metaphases from peripheral blood lymphocytes culture at birth: a shorter marker chromosome and an apparently acentric fragment frequently lost. (biomedcentral.com)
  • Conversely, SDs located on the same chromosomal arms in inverted orientation (c) or on different chromosomal arms directly orientation (d) would lead to unstable dicentric and acentric chromosomes, resulting in chromosome breakage and loss, respectively. (els.net)
  • Recently, chromosome 17 centromere enumeration probe (CEP17) duplication has also been associated with increased responsiveness to anthracyclines. (uab.cat)
  • Occasionally a gene on a single chromosome will be duplicated to create a pair of identical genes. (jrank.org)
  • The presence of the same pair of duplications in additional individuals reported in public databases indicates that the inversion may also be present in other populations. (biomedcentral.com)
  • Human chromosome 16 pair after G-banding . (wikipedia.org)
  • Chromosome 16 pair in human male karyogram . (wikipedia.org)
  • Humans have 23 pairs of chromosomes, which means that each human cell contains 46 chromosomes. (diseaseinfosearch.org)
  • Chromosome 16 is one of the 23 pairs of chromosomes in humans . (wikipedia.org)
  • The third largest of the 23 pairs of chromosomes found in human cells is chromosome 3. (news-medical.net)
  • The Y chromosome appears to have accumulated small and large repetitive interchromosomal duplications. (biomedsearch.com)
  • The large interchromosomal duplications harbour an importin-4-like gene fragment. (biomedsearch.com)
  • The phenotypic manifestations of chromosome 17p11.2 duplication. (medscape.com)
  • Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). (medscape.com)
  • In 1991, 2 groups showed that the most common form of CMT1, known as CMT1A, was associated with a duplication within chromosome 17p11.2. (medscape.com)
  • There are several different types of chromosome 15q duplications - isodicentric, interstitial, mosiac, edge duplications. (dup15q.org)
  • The study has led to the hypothesis that various chromosomes or parts of chromosomes have a genetically controlled sequence in duplication which may have some functional significance. (rupress.org)
  • More detailed symptom information may be found on the symptoms of Chromosome 11p partial duplication article. (rightdiagnosis.com)
  • The phrase "signs of Chromosome 11p partial duplication" should, strictly speaking, refer only to those signs and symptoms of Chromosome 11p partial duplication that are not readily apparent to the patient. (rightdiagnosis.com)
  • The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Chromosome 11p partial duplication. (rightdiagnosis.com)
  • Furthermore, signs and symptoms of Chromosome 11p partial duplication may vary on an individual basis for each patient. (rightdiagnosis.com)
  • I am curious if anyone has a child with a Chromosome 17 deletion & duplication. (circleofmoms.com)
  • The fetal karyotype showed a mosaicism with a 45,X cell line and a 46 chromosomes second line with a big marker, instead of a sex chromosome. (biomedcentral.com)
  • The following are some of the gene count estimates of human chromosome 16. (wikipedia.org)
  • The following is a partial list of genes on human chromosome 16. (wikipedia.org)
  • The EGFR gene is located on the short arm of chromosome 7 (7p12). (clinicaltrials.gov)
  • Large duplication of the short arm of chromosome 5 is a rare condition normally associated to severe phenotype anomalies including heart and brain malformations. (elsevier.com)
  • Chromosome investigations revealed an inverted duplication of the short arm of chromosome 5 from 5p13.1 to 5p15.33 and a 800 kb deletion at 5pter. (elsevier.com)
  • We conclude that the phylogenetic analyses and chromosomal locations of these gene families support duplications of large blocks of genes or even entire chromosomes. (biomedcentral.com)
  • 22q11.2 duplication is a condition caused by an extra copy of a small piece of chromosome 22. (medlineplus.gov)
  • A set of 408 overlapping P[acman] BAC clones was used to create small duplications (average length 88 kb) covering the 22-Mb sequenced portion of the chromosome. (genetics.org)
  • The condition is officially diagnosed with a genetic test that allows the specialist to see that a specific portion of the chromosome is duplicated. (diseaseinfosearch.org)
  • METHODOLOGY/PRINCIPAL FINDINGS: A combined Representational Difference Analysis (RDA) and fluorescence in-situ hybridization (FISH) approach was used to investigate the Y chromosome to derive information on its sequence content. (biomedsearch.com)
  • Moreover, as the identified Y sequences were not detected on the Y chromosomes of closely related tephritids, we can infer divergence in the repetitive nature of their sequence contents. (biomedsearch.com)
  • Fluorescence in situ hybridization of mitotic chromosomes confirms that the LGT in the Hawaii line is heterochromatic and represents ~20% of the sequence on chromosome 4 ( dot chromosome, Muller element F). (biomedcentral.com)
  • A collection of human genes that have known functions have been examined for a history of gene duplications detected by means of amino acid sequence similarity by using BLASTp with an expectation of two or less (open criterion). (pnas.org)
  • It appears that none attempt to estimate the percentage of human genes that have been derived by duplication by means of studies of sequence similarity at open criterion. (pnas.org)
  • There is little doubt that duplication or copying of genes has been an ancient process, and as a result of the long time span, the earliest sequence similarities have been lost because of amino acid sequence drift. (pnas.org)
  • The purpose of this work has been to count the number of still recognizable sequence similarities and estimate the fraction of the present human genes that may have resulted from duplication. (pnas.org)
  • Their chromosomal distribution and sequence analyses suggest that the bZIP transcription factor family has evolved via gene duplication. (plantphysiol.org)
  • Remnants of these predicted rearrangements have been brought out through fine analysis of the chromosome sequence. (biomedsearch.com)
  • Such crossovers can generate an abnormal Y chromosome, as was recently shown to reduce male fertility in humans. (genetics.org)
  • Comparative analysis between humans and chimpanzees suggests ongoing recombination between the gene duplicate pairs that reside on the same Y chromosome. (genetics.org)
  • Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (nih.gov)
  • and (2) the associated duplication will in general cause further phenotypic anomalies and might confuse the genotype-phenotype correlation. (uzh.ch)
  • Expanding the phenotype associated with 17q12 duplication: case report and review of the literature. (medlineplus.gov)
  • Those observations provided evidence that the Bar phenotype is not the result of a conventional mutation but is instead a duplication. (botanystudies.com)
  • Corresponding to other patients with duplications of the paternal ICR2 copy, a BWS phenotype is not present. (frontiersin.org)
  • Symptoms of 2p duplications may include developmental delays, intellectual difficulties, communication difficulties, difficulties with gross and fine motor skills, and heart and breathing (respiratory) issues. (diseaseinfosearch.org)
  • Intellectual and learning ability in people with 17q12 duplications ranges from normal to severely impaired. (medlineplus.gov)
  • 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)
  • Many people with the duplication have no apparent physical or intellectual disabilities. (medlineplus.gov)
  • X-Linked Intellectual Disabilities Deletion/Duplication. (mendelian.co)
  • Some chromosome 20p duplications have resulted from a random genetic error (not inherited ), in which both parents have normal chromosomes. (cdc.gov)
  • Duplication and retention of functional Y-linked gene copies is somewhat surprising because evolutionary theory predicts an opposing pattern. (genetics.org)
  • This duplication affects one of the two copies of chromosome 17 in each cell. (medlineplus.gov)
  • The inheritance of 22q11.2 duplication is considered autosomal dominant because the duplication affects one of the two copies of chromosome 22 in each cell. (medlineplus.gov)
  • If the chromosomes each have a tandem repeat, the crossover machinery may line up incorrectly, leaving one homologue with three gene copies and one with only one. (jrank.org)
  • People normally have two copies of this chromosome. (wikipedia.org)
  • Two copies of chromosome 16, one copy inherited from each parent, form one of the pairs. (nih.gov)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 16. (nih.gov)
  • Although these gene copies are preserved on both chromosomes, their expression patterns have diverged. (cshl.edu)
  • Through this analysis, we show that all eukaryote chromosomes exhibit similar characteristics for their intrachromosomal repeats, suggesting similar dynamics: many direct repeats have their two copies physically close together, and these close direct repeats are more similar and shorter than the other repeats. (biomedsearch.com)
  • We report an original case of simultaneous deletion and duplication of chromosome 4q, confirmed by SNPs-array analysis of DNA, and characterized by a previously unreported association between optic nerve hypoplasia and progressive external ophthalmoplegia. (elsevier.com)
  • With dropping costs, genetic testing is becoming more common, and reveals that duplication of 15q11-13 is the second most common chromosomal alteration in autism. (spectrumnews.org)
  • To obtain further insight, we investigated misexpressions that could cause the pronounced growth deficiency and death of fetuses with maternal duplication of distal chromosome (Chr) 7 (MatDup.dist7). (plos.org)
  • Results Distal chromosome 16p11.2 microduplications containing the gene SH2B1 were found in 0.7% of AIS cases (8/1197). (bmj.com)
  • Individuals with distal chromosome 16p11.2 microduplications should be screened for scoliosis to facilitate early treatment. (bmj.com)
  • Identifying genes on each chromosome is an active area of genetic research. (nih.gov)
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (nih.gov)
  • The milder manifestations in our patient are consistent with the hypothesis that significant phenotypic effects are associated with duplication of material proximal to band 5p14. (elsevier.com)
  • Chromosome Duplication may cause phenotypic variations that may at first appear to be caused by a simple point mutation. (botanystudies.com)
  • Hypotheses about the timing and extent of individual events contributing to this structure range from our preference of a few discrete events ( 1 , 3 ) to many segmental events ( 5 ), but all agree that much segmental duplication has occurred in both monocots and dicots since their divergence from a common ancestor, variously estimated at 125-140 ( 6 ) to 170-235 million years ago ( 7 ). (pnas.org)
  • Core duplicon model for segmental duplication formation. (els.net)
  • This step results in an increase of the segmental duplication size now composed by the CD (filled green square) plus flanking sequences (filled orange squares). (els.net)
  • 2013) A common 56‐kilobase deletion in a primate‐specific segmental duplication creates a novel butyrophilin‐like protein. (els.net)
  • When chromatid aberrations are induced, after chromosomal duplication, the number of sites more than doubles. (sciencemag.org)
  • His chromosomal duplication is very rare, located at 2p23.2. (circleofmoms.com)
  • Chromosome 9 inversion is when there are two breaks on chromosome 9. (diseaseinfosearch.org)
  • If both breaks occur in the same arm of the chromosome, this is called a paracentric inversion. (diseaseinfosearch.org)
  • If one break occurs in the short arm and the other in the long arm of the chromosome, then this is called a pericentric inversion. (diseaseinfosearch.org)
  • Chromosome 9 inversions commonly occur as a pericentric inversion. (diseaseinfosearch.org)
  • Following organizations serve the condition "Chromosome 9 Inversion or Duplication" for support, advocacy or research. (diseaseinfosearch.org)
  • Finding the right clinical trial for Chromosome 9 Inversion or Duplication can be challenging. (diseaseinfosearch.org)
  • The terms "Chromosome 9 Inversion or Duplication" returned 0 free, full-text research articles on human participants. (diseaseinfosearch.org)
  • According to ClinicalTrials.gov there are currently 0 additional "open" studies for "Chromosome 9 Inversion or Duplication" (open studies are recruiting volunteers) and 0 "Chromosome 9 Inversion or Duplication" studies with "all" status. (diseaseinfosearch.org)
  • Despite of its length, the inversion cannot be detected using karyotyping due to similar band patterns on the normal and inverted chromosomes, and is therefore likely to escape attention. (biomedcentral.com)
  • The finding prompted us to hypothesise that this co-occurrence of two remote duplications could be associated with an inversion of the intervening segment, and this speculation turned out to be right. (biomedcentral.com)
  • The inversion was confirmed in a series of FISH experiments which also showed that the second copy of each of the duplications was always located at the opposite end of the inversion. (biomedcentral.com)
  • Although the breakpoints affect protein-coding genes, the occurrence of the inversion in normal parents and siblings of our patients and the occurrence of the duplications in unaffected controls in databases indicate that this rare variant is rather non-pathogenic. (biomedcentral.com)
  • Such duplications have implications for mapping and gene analysis as well as the predisposition to recurrent chromosomal structural rearrangements associated with genetic disease. (nih.gov)
  • Inversions are balanced structural chromosome rearrangements, which can influence gene expression and the risk of unbalanced chromosome constitution in offspring. (biomedcentral.com)