A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
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 locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.
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.
Any method used for determining the location of and relative distances between genes on a chromosome.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
Mapping of the KARYOTYPE of a cell.
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 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.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
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)
Actual loss of portion of a chromosome.
A specific pair of GROUP C CHROMOSOMES 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.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
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 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 GROUP C CHROMSOMES of the human chromosome classification.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP B 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.
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)
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.
Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
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.
A specific pair of GROUP C 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 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.
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).
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
The alignment of CHROMOSOMES at homologous sequences.
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
A 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.
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
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.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
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.
Structures within the CELL NUCLEUS of insect cells containing DNA.
The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.
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.
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.
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.
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.
A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females.
The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.
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.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
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.
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.
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
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).
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 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).
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)
Structures which are contained in or part of CHROMOSOMES.
The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.
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.
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.
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.
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.)
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.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
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 possession of a third chromosome of any one type in an otherwise diploid cell.
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 total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
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.
An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE).
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).
Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.
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.
DNA present in neoplastic tissue.
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 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.
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.
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.
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.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
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)
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.
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)
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.
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.
Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.
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.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
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 genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
A characteristic symptom complex.
Any tests that demonstrate the relative efficacy of different chemotherapeutic agents against specific microorganisms (i.e., bacteria, fungi, viruses).
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.
Low-copy (2-50) repetitive DNA elements that are highly homologous and range in size from 1000 to 400,000 base pairs.
The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
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.
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
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.
An aberration in which an extra chromosome or a chromosomal segment is made.
Normal cellular genes homologous to viral oncogenes. The products of proto-oncogenes are important regulators of biological processes and appear to be involved in the events that serve to maintain the ordered procession through the cell cycle. Proto-oncogenes have names of the form c-onc.
An individual having different alleles at one or more loci regarding a specific character.
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.
DNA constructs that are composed of, at least, all elements, such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, required for successful replication, propagation to and maintainance in progeny human cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
Deletion of sequences of nucleic acids from the genetic material of an individual.
Metacentric chromosomes produced during MEIOSIS or MITOSIS when the CENTROMERE splits transversely instead of longitudinally. The chromosomes produced by this abnormal division are one chromosome having the two long arms of the original chromosome, but no short arms, and the other chromosome consisting of the two short arms and no long arms. Each of these isochromosomes constitutes a simultaneous duplication and deletion.
Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.
Proto-oncogene protein bcr is a serine-threonine kinase that functions as a negative regulator of CELL PROLIFERATION and NEOPLASTIC CELL TRANSFORMATION. It is commonly fused with cellular abl protein to form BCR-ABL FUSION PROTEINS in PHILADELPHIA CHROMOSOME positive LEUKEMIA patients.
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
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.
An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
Genotypic differences observed among individuals in a population.
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.
Genetic loci associated with a QUANTITATIVE TRAIT.
Mapping of the linear order of genes on a chromosome with units indicating their distances by using methods other than genetic recombination. These methods include nucleotide sequencing, overlapping deletions in polytene chromosomes, and electron micrography of heteroduplex DNA. (From King & Stansfield, A Dictionary of Genetics, 5th ed)
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.
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.
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.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
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.
Contiguous large-scale (1000-400,000 basepairs) differences in the genomic DNA between individuals, due to SEQUENCE DELETION; SEQUENCE INSERTION; or SEQUENCE INVERSION.
The interval between two successive CELL DIVISIONS during which the CHROMOSOMES are not individually distinguishable. It is composed of the G phases (G1 PHASE; G0 PHASE; G2 PHASE) and S PHASE (when DNA replication occurs).
The relationships of groups of organisms as reflected by their genetic makeup.
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.
Interruptions in the sugar-phosphate backbone of DNA.
Myeloid-lymphoid leukemia protein is a transcription factor that maintains high levels of HOMEOTIC GENE expression during development. The GENE for myeloid-lymphoid leukemia protein is commonly disrupted in LEUKEMIA and combines with over 40 partner genes to form FUSION ONCOGENE PROTEINS.
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.
Established cell cultures that have the potential to propagate indefinitely.
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)
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.
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 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.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
The process by which a DNA molecule is duplicated.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
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.
Either of the two longitudinally adjacent threads formed when a eukaryotic chromosome replicates prior to mitosis. The chromatids are held together at the centromere. Sister chromatids are derived from the same chromosome. (Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
The Alu sequence family (named for the restriction endonuclease cleavage enzyme Alu I) is the most highly repeated interspersed repeat element in humans (over a million copies). It is derived from the 7SL RNA component of the SIGNAL RECOGNITION PARTICLE and contains an RNA polymerase III promoter. Transposition of this element into coding and regulatory regions of genes is responsible for many heritable diseases.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
The sequential location of genes on a chromosome.
PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.
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 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.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
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.
An individual in which both alleles at a given locus are identical.
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.
Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
Genes that influence the PHENOTYPE only in the homozygous state.
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.
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.
Biochemical identification of mutational changes in a nucleotide sequence.
The GENETIC TRANSLATION products of the fusion between an ONCOGENE and another gene. The latter may be of viral or cellular origin.
Genes whose gain-of-function alterations lead to NEOPLASTIC CELL TRANSFORMATION. They include, for example, genes for activators or stimulators of CELL PROLIFERATION such as growth factors, growth factor receptors, protein kinases, signal transducers, nuclear phosphoproteins, and transcription factors. A prefix of "v-" before oncogene symbols indicates oncogenes captured and transmitted by RETROVIRUSES; the prefix "c-" before the gene symbol of an oncogene indicates it is the cellular homolog (PROTO-ONCOGENES) of a v-oncogene.
A form of GENE LIBRARY containing the complete DNA sequences present in the genome of a given organism. It contrasts with a cDNA library which contains only sequences utilized in protein coding (lacking introns).
Substances that reduce the growth or reproduction of BACTERIA.
The first phase of cell nucleus division, in which the CHROMOSOMES become visible, the CELL NUCLEUS starts to lose its identity, the SPINDLE APPARATUS appears, and the CENTRIOLES migrate toward opposite poles.
A nucleic acid sequence that contains an above average number of ADENINE and THYMINE bases.
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.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
The simultaneous identification of all chromosomes from a cell by fluorescence in situ hybridization (IN SITU HYBRIDIZATION, FLUORESCENCE) with chromosome-specific florescent probes that are discerned by their different emission spectra.
Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (MYELOID PROGENITOR CELLS) in the bone marrow and other sites.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)
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)
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.
A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative.
The degree of replication of the chromosome set in the karyotype.
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).
Male germ cells derived from SPERMATOGONIA. The euploid primary spermatocytes undergo MEIOSIS and give rise to the haploid secondary spermatocytes which in turn give rise to SPERMATIDS.
Genes that are located on the X CHROMOSOME.
The functional hereditary units of INSECTS.
Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.
Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.

A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements. (1/164)

 (+info)

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. (2/164)

 (+info)

Exon array profiling detects EML4-ALK fusion in breast, colorectal, and non-small cell lung cancers. (3/164)

 (+info)

Healing of euchromatic chromosome breaks by efficient de novo telomere addition in Drosophila melanogaster. (4/164)

 (+info)

Inferring tumor progression from genomic heterogeneity. (5/164)

 (+info)

Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12). (6/164)

 (+info)

The t(14;18)(q32;q21)/IGH-MALT1 translocation in MALT lymphomas contains templated nucleotide insertions and a major breakpoint region similar to follicular and mantle cell lymphoma. (7/164)

 (+info)

Long-range oncogenic activation of Igh-c-myc translocations by the Igh 3' regulatory region. (8/164)

 (+info)

When a chromosome breaks, it can lead to genetic instability and potentially contribute to the development of diseases such as cancer. Chromosome breakage can also result in the loss or gain of genetic material, which can further disrupt normal cellular function and increase the risk of disease.

There are several types of chromosome breakage, including:

1. Chromosomal aberrations: These occur when there is a change in the number or structure of the chromosomes, such as an extra copy of a chromosome (aneuploidy) or a break in a chromosome.
2. Genomic instability: This refers to the presence of errors in the genetic material that can lead to changes in the function of cells and tissues.
3. Chromosomal fragile sites: These are specific regions of the chromosomes that are more prone to breakage than other regions.
4. Telomere shortening: Telomeres are the protective caps at the ends of the chromosomes, and their shortening can lead to chromosome breakage and genetic instability.

Chromosome breakage can be detected through cytogenetic analysis, which involves staining the cells with dyes to visualize the chromosomes and look for any abnormalities. The detection of chromosome breakage can help diagnose certain diseases, such as cancer, and can also provide information about the risk of disease progression.

In summary, chromosome breakage is a type of genetic alteration that can occur as a result of various factors, including exposure to radiation or chemicals, errors during cell division, or aging. It can lead to genetic instability and increase the risk of diseases such as cancer. Detection of chromosome breakage through cytogenetic analysis can help diagnose certain diseases and provide information about the risk of disease progression.

https://www.medicinenet.com › Medical Dictionary › G

A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.

Genetic Translocation | Definition & Facts | Britannica
https://www.britannica.com › science › Genetic-tr...

Genetic translocation, also called chromosomal translocation, a type of chromosomal aberration in which a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material. Genetic translocations are often found in cancer cells and may play a role in the development and progression of cancer.

Translocation, Genetic | health Encyclopedia - UPMC
https://www.upmc.com › health-library › gene...

A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.

Genetic Translocation | Genetics Home Reference - NIH
https://ghr.nlm.nih.gov › condition › ge...

A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.

In conclusion, Genetic Translocation is an abnormality in the number or arrangement of chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome, resulting in a gain or loss of genetic material that can have significant effects on the individual.

There are several types of chromosome aberrations, including:

1. Chromosomal deletions: Loss of a portion of a chromosome.
2. Chromosomal duplications: Extra copies of a chromosome or a portion of a chromosome.
3. Chromosomal translocations: A change in the position of a chromosome or a portion of a chromosome.
4. Chromosomal inversions: A reversal of a segment of a chromosome.
5. Chromosomal amplifications: An increase in the number of copies of a particular chromosome or gene.

Chromosome aberrations can be detected through various techniques, such as karyotyping, fluorescence in situ hybridization (FISH), or array comparative genomic hybridization (aCGH). These tests can help identify changes in the chromosomal makeup of cells and provide information about the underlying genetic causes of disease.

Chromosome aberrations are associated with a wide range of diseases, including:

1. Cancer: Chromosome abnormalities are common in cancer cells and can contribute to the development and progression of cancer.
2. Birth defects: Many birth defects are caused by chromosome abnormalities, such as Down syndrome (trisomy 21), which is caused by an extra copy of chromosome 21.
3. Neurological disorders: Chromosome aberrations have been linked to various neurological disorders, including autism and intellectual disability.
4. Immunodeficiency diseases: Some immunodeficiency diseases, such as X-linked severe combined immunodeficiency (SCID), are caused by chromosome abnormalities.
5. Infectious diseases: Chromosome aberrations can increase the risk of infection with certain viruses, such as human immunodeficiency virus (HIV).
6. Ageing: Chromosome aberrations have been linked to the ageing process and may contribute to the development of age-related diseases.
7. Radiation exposure: Exposure to radiation can cause chromosome abnormalities, which can increase the risk of cancer and other diseases.
8. Genetic disorders: Many genetic disorders are caused by chromosome aberrations, such as Turner syndrome (45,X), which is caused by a missing X chromosome.
9. Rare diseases: Chromosome aberrations can cause rare diseases, such as Klinefelter syndrome (47,XXY), which is caused by an extra copy of the X chromosome.
10. Infertility: Chromosome abnormalities can contribute to infertility in both men and women.

Understanding the causes and consequences of chromosome aberrations is important for developing effective treatments and improving human health.

Some common effects of chromosomal deletions include:

1. Genetic disorders: Chromosomal deletions can lead to a variety of genetic disorders, such as Down syndrome, which is caused by a deletion of a portion of chromosome 21. Other examples include Prader-Willi syndrome (deletion of chromosome 15), and Williams syndrome (deletion of chromosome 7).
2. Birth defects: Chromosomal deletions can increase the risk of birth defects, such as heart defects, cleft palate, and limb abnormalities.
3. Developmental delays: Children with chromosomal deletions may experience developmental delays, learning disabilities, and intellectual disability.
4. Increased cancer risk: Some chromosomal deletions can increase the risk of developing certain types of cancer, such as chronic myelogenous leukemia (CML) and breast cancer.
5. Reproductive problems: Chromosomal deletions can lead to reproductive problems, such as infertility or recurrent miscarriage.

Chromosomal deletions can be diagnosed through a variety of techniques, including karyotyping (examination of the chromosomes), fluorescence in situ hybridization (FISH), and microarray analysis. Treatment options for chromosomal deletions depend on the specific effects of the deletion and may include medication, surgery, or other forms of therapy.

Inversions are classified based on their location along the chromosome:

* Interstitial inversion: A segment of DNA is reversed within a larger gene or group of genes.
* Pericentric inversion: A segment of DNA is reversed near the centromere, the region of the chromosome where the sister chromatids are most closely attached.

Chromosome inversions can be detected through cytogenetic analysis, which allows visualization of the chromosomes and their structure. They can also be identified using molecular genetic techniques such as PCR (polymerase chain reaction) or array comparative genomic hybridization (aCGH).

Chromosome inversions are relatively rare in the general population, but they have been associated with various developmental disorders and an increased risk of certain diseases. For example, individuals with an inversion on chromosome 8p have an increased risk of developing cancer, while those with an inversion on chromosome 9q have a higher risk of developing neurological disorders.

Inversions can be inherited from one or both parents, and they can also occur spontaneously as a result of errors during DNA replication or repair. In some cases, inversions may be associated with other genetic abnormalities, such as translocations or deletions.

Overall, chromosome inversions are an important aspect of human genetics and can provide valuable insights into the mechanisms underlying developmental disorders and disease susceptibility.

There are many different types of chromosome disorders, including:

1. Trisomy: This is a condition in which there is an extra copy of a chromosome. For example, Down syndrome is caused by an extra copy of chromosome 21.
2. Monosomy: This is a condition in which there is a missing copy of a chromosome.
3. Turner syndrome: This is a condition in which there is only one X chromosome instead of two.
4. Klinefelter syndrome: This is a condition in which there are three X chromosomes instead of the typical two.
5. Chromosomal translocations: These are abnormalities in which a piece of one chromosome breaks off and attaches to another chromosome.
6. Inversions: These are abnormalities in which a segment of a chromosome is reversed end-to-end.
7. Deletions: These are abnormalities in which a portion of a chromosome is missing.
8. Duplications: These are abnormalities in which there is an extra copy of a segment of a chromosome.

Chromosome disorders can have a wide range of effects on the body, depending on the type and severity of the condition. Some common features of chromosome disorders include developmental delays, intellectual disability, growth problems, and physical abnormalities such as heart defects or facial anomalies.

There is no cure for chromosome disorders, but treatment and support are available to help manage the symptoms and improve the quality of life for individuals with these conditions. Treatment may include medications, therapies, and surgery, as well as support and resources for families and caregivers.

Preventive measures for chromosome disorders are not currently available, but research is ongoing to understand the causes of these conditions and to develop new treatments and interventions. Early detection and diagnosis can help identify chromosome disorders and provide appropriate support and resources for individuals and families.

In conclusion, chromosome disorders are a group of genetic conditions that affect the structure or number of chromosomes in an individual's cells. These conditions can have a wide range of effects on the body, and there is no cure, but treatment and support are available to help manage symptoms and improve quality of life. Early detection and diagnosis are important for identifying chromosome disorders and providing appropriate support and resources for individuals and families.

Ring chromosomes are relatively rare, occurring in about 1 in every 10,000 to 20,000 births. They can be caused by a variety of factors, including genetic mutations, errors during cell division, or exposure to certain chemicals or radiation.

Ring chromosomes can affect anyone, regardless of age or gender. However, they are more common in certain populations, such as people with a family history of the condition or those who have certain medical conditions like Down syndrome or Turner syndrome.

The symptoms of ring chromosomes can vary widely and may include:

* Delayed growth and development
* Intellectual disability or learning difficulties
* Speech and language problems
* Vision and hearing impairments
* Heart defects
* Bone and joint problems
* Increased risk of infections and other health problems

Ring chromosomes can be diagnosed through a variety of tests, including karyotyping, fluorescence in situ hybridization (FISH), and microarray analysis. Treatment for the condition typically focuses on managing any associated health problems and may include medication, surgery, or other interventions.

In some cases, ring chromosomes can be inherited from one's parents. However, many cases are not inherited and occur spontaneously due to a genetic mutation. In these cases, the risk of recurrence in future pregnancies is generally low.

Overall, ring chromosomes are a complex and relatively rare chromosomal abnormality that can have a significant impact on an individual's health and development. With proper diagnosis and treatment, many people with ring chromosomes can lead fulfilling lives, but it is important to work closely with medical professionals to manage any associated health problems.

There are several types of chromosome fragility, including:

1. Fragile X syndrome: This is the most common form of chromosome fragility and is caused by an expansion of a CGG repeat in the FMR1 gene on the X chromosome. It is associated with intellectual disability, behavioral problems, and physical characteristics such as large ears and long faces.
2. Turner syndrome: This is a condition where one X chromosome is missing or partially deleted, leading to short stature, infertility, and other developmental delays.
3. Klinefelter syndrome: This is a condition where an individual has an extra X chromosome, leading to tall stature, small testes, and infertility.
4. Trisomy 13 and trisomy 18: These are conditions where there is an extra copy of chromosomes 13 or 18, leading to developmental delays and other physical and intellectual disabilities.
5. Chromosome breakage syndromes: These are conditions where there is a defect in the chromosome that increases the risk of breakage during cell division, leading to aneuploidy or structural changes. Examples include ataxia-telangiectasia and Nijmegen breakage syndrome.

Chromosome fragility can be diagnosed through a variety of methods, including karyotyping, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (aCGH). Treatment for chromosome fragility depends on the specific condition and may include medication, surgery, or other interventions.

There are several types of aneuploidy, including:

1. Trisomy: This is the presence of an extra copy of a chromosome. For example, Down syndrome is caused by an extra copy of chromosome 21 (trisomy 21).
2. Monosomy: This is the absence of a chromosome.
3. Mosaicism: This is the presence of both normal and abnormal cells in the body.
4. Uniparental disomy: This is the presence of two copies of a chromosome from one parent, rather than one copy each from both parents.

Aneuploidy can occur due to various factors such as errors during cell division, exposure to certain chemicals or radiation, or inheritance of an abnormal number of chromosomes from one's parents. The risk of aneuploidy increases with age, especially for women over the age of 35, as their eggs are more prone to errors during meiosis (the process by which egg cells are produced).

Aneuploidy can be diagnosed through various methods such as karyotyping (examining chromosomes under a microscope), fluorescence in situ hybridization (FISH) or quantitative PCR. Treatment for aneuploidy depends on the underlying cause and the specific health problems it has caused. In some cases, treatment may involve managing symptoms, while in others, it may involve correcting the genetic abnormality itself.

In summary, aneuploidy is a condition where there is an abnormal number of chromosomes present in a cell, which can lead to various developmental and health problems. It can occur due to various factors and can be diagnosed through different methods. Treatment depends on the underlying cause and the specific health problems it has caused.

Some examples of multiple abnormalities include:

1. Multiple chronic conditions: An individual may have multiple chronic conditions such as diabetes, hypertension, arthritis, and heart disease, which can affect their quality of life and increase their risk of complications.
2. Congenital anomalies: Some individuals may be born with multiple physical abnormalities or birth defects, such as heart defects, limb abnormalities, or facial deformities.
3. Mental health disorders: Individuals may experience multiple mental health disorders, such as depression, anxiety, and bipolar disorder, which can impact their cognitive functioning and daily life.
4. Neurological conditions: Some individuals may have multiple neurological conditions, such as epilepsy, Parkinson's disease, and stroke, which can affect their cognitive and physical functioning.
5. Genetic disorders: Individuals with genetic disorders, such as Down syndrome or Turner syndrome, may experience a range of physical and developmental abnormalities.

The term "multiple abnormalities" is often used in medical research and clinical practice to describe individuals who have complex health needs and require comprehensive care. It is important for healthcare providers to recognize and address the multiple needs of these individuals to improve their overall health outcomes.

Trisomy is caused by an extra copy of a chromosome, which can be due to one of three mechanisms:

1. Trisomy 21 (Down syndrome): This is the most common type of trisomy and occurs when there is an extra copy of chromosome 21. It is estimated to occur in about 1 in every 700 births.
2. Trisomy 13 (Patau syndrome): This type of trisomy occurs when there is an extra copy of chromosome 13. It is estimated to occur in about 1 in every 10,000 births.
3. Trisomy 18 (Edwards syndrome): This type of trisomy occurs when there is an extra copy of chromosome 18. It is estimated to occur in about 1 in every 2,500 births.

The symptoms of trisomy can vary depending on the type of trisomy and the severity of the condition. Some common symptoms include:

* Delayed physical growth and development
* Intellectual disability
* Distinctive facial features, such as a flat nose, small ears, and a wide, short face
* Heart defects
* Vision and hearing problems
* GI issues
* Increased risk of infection

Trisomy can be diagnosed before birth through prenatal testing, such as chorionic villus sampling (CVS) or amniocentesis. After birth, it can be diagnosed through a blood test or by analyzing the child's DNA.

There is no cure for trisomy, but treatment and support are available to help manage the symptoms and improve the quality of life for individuals with the condition. This may include physical therapy, speech therapy, occupational therapy, and medication to manage heart defects or other medical issues. In some cases, surgery may be necessary to correct physical abnormalities.

The prognosis for trisomy varies depending on the type of trisomy and the severity of the condition. Some forms of trisomy are more severe and can be life-threatening, while others may have a more mild impact on the individual's quality of life. With appropriate medical care and support, many individuals with trisomy can lead fulfilling lives.

In summary, trisomy is a genetic condition that occurs when there is an extra copy of a chromosome. It can cause a range of symptoms and can be diagnosed before or after birth. While there is no cure for trisomy, treatment and support are available to help manage the symptoms and improve the quality of life for individuals with the condition.

Synonyms: BCR-ABL fusion gene, t(9;22)(q34;q11), p210 protein, bcr-abl fusion transcript, breakpoint cluster region (BCR) - Abelson tyrosine kinase (ABLE) fusion gene.

Word Origin: Named after the city of Philadelphia, where it was first described in 1960.

There are several types of genetic nondisjunction, including:

1. Robertsonian translocation: This type of nondisjunction involves the exchange of genetic material between two chromosomes, resulting in a mixture of genetic information that can lead to developmental abnormalities.
2. Turner syndrome: This is a rare condition that occurs when one X chromosome is missing or partially present, leading to physical and developmental abnormalities in females.
3. Klinefelter syndrome: This condition occurs when an extra X chromosome is present, leading to physical and developmental abnormalities in males.
4. Trisomy 13: This condition occurs when there are three copies of chromosome 13, leading to severe developmental and physical abnormalities.
5. Trisomy 18: This condition occurs when there are three copies of chromosome 18, leading to severe developmental and physical abnormalities.

Genetic nondisjunction can be caused by various factors, including genetic mutations, errors during meiosis, or exposure to certain chemicals or radiation. It can be diagnosed through cytogenetic analysis, which involves studying the chromosomes of cells to identify any abnormalities.

Treatment for genetic nondisjunction depends on the specific type and severity of the condition. In some cases, no treatment is necessary, while in others, medication or surgery may be recommended. Prenatal testing can also be done to detect genetic nondisjunction before birth.

In summary, genetic nondisjunction is a chromosomal abnormality that occurs during meiosis and can lead to developmental and physical abnormalities. It can be caused by various factors and diagnosed through cytogenetic analysis. Treatment depends on the specific type and severity of the condition, and prenatal testing is available to detect genetic nondisjunction before birth.

There are various causes of intellectual disability, including:

1. Genetic disorders, such as Down syndrome, Fragile X syndrome, and Turner syndrome.
2. Congenital conditions, such as microcephaly and hydrocephalus.
3. Brain injuries, such as traumatic brain injury or hypoxic-ischemic injury.
4. Infections, such as meningitis or encephalitis.
5. Nutritional deficiencies, such as iron deficiency or iodine deficiency.

Intellectual disability can result in a range of cognitive and functional impairments, including:

1. Delayed language development and difficulty with communication.
2. Difficulty with social interactions and adapting to new situations.
3. Limited problem-solving skills and difficulty with abstract thinking.
4. Slow learning and memory difficulties.
5. Difficulty with fine motor skills and coordination.

There is no cure for intellectual disability, but early identification and intervention can significantly improve outcomes. Treatment options may include:

1. Special education programs tailored to the individual's needs.
2. Behavioral therapies, such as applied behavior analysis (ABA) and positive behavior support (PBS).
3. Speech and language therapy.
4. Occupational therapy to improve daily living skills.
5. Medications to manage associated behaviors or symptoms.

It is essential to recognize that intellectual disability is a lifelong condition, but with appropriate support and resources, individuals with ID can lead fulfilling lives and reach their full potential.

Examples of syndromes include:

1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.

Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.

Monosomy refers to a condition where an individual has only one copy of a particular chromosome, instead of the usual two copies present in every cell of the body. This can occur due to various genetic or environmental factors and can lead to developmental delays, intellectual disability, and physical abnormalities.

Other Defination:
Monosomy can also refer to the absence of a specific chromosome or part of a chromosome. For example, monosomy 21 is the condition where an individual has only one copy of chromosome 21, which is the chromosome responsible for Down syndrome. Similarly, monosomy 8p is the condition where there is a loss of a portion of chromosome 8p.

Synonyms:
Monosomy is also known as single chromosome deletion or single chromosome monosomy.

Antonyms:
Polysomy, which refers to the presence of extra copies of a particular chromosome, is the antonym of monosomy.

In Medical Terminology:
Monosomy is a genetic term that is used to describe a condition where there is only one copy of a particular chromosome present in an individual's cells, instead of the usual two copies. This can occur due to various factors such as errors during cell division or exposure to certain chemicals or viruses. Monosomy can lead to a range of developmental delays and physical abnormalities, depending on the location and extent of the missing chromosome material.

In Plain English:
Monosomy is a condition where a person has only one copy of a particular chromosome instead of two copies. This can cause developmental delays and physical abnormalities, and can be caused by genetic or environmental factors. It's important to note that monosomy can occur on any chromosome, but some specific types of monosomy are more common and well-known than others. For example, Down syndrome is a type of monosomy that occurs when there is an extra copy of chromosome 21.

Causes of Chromosomal Instability:

1. Genetic mutations: Mutations in genes that regulate the cell cycle or chromosome segregation can lead to CIN.
2. Environmental factors: Exposure to certain environmental agents such as radiation and certain chemicals can increase the risk of developing CIN.
3. Errors during DNA replication: Mistakes during DNA replication can also lead to CIN.

Types of Chromosomal Instability:

1. Aneuploidy: Cells with an abnormal number of chromosomes, either more or fewer than the normal diploid number (46 in humans).
2. Structural changes: Deletions, duplications, inversions, translocations, and other structural changes can occur in the chromosomes.
3. Unstable chromosome structures: Chromosomes with abnormal shapes or structures, such as telomere shortening, centromere instability, or chromosome breaks, can also lead to CIN.

Effects of Chromosomal Instability:

1. Cancer: CIN can increase the risk of developing cancer by disrupting normal cellular processes and leading to genetic mutations.
2. Aging: CIN can contribute to aging by shortening telomeres, which are the protective caps at the ends of chromosomes that help maintain their stability.
3. Neurodegenerative diseases: CIN has been implicated in the development of certain neurodegenerative diseases such as Alzheimer's and Parkinson's.
4. Infertility: CIN can lead to infertility by disrupting normal meiotic recombination and chromosome segregation during gametogenesis.

Detection and Diagnosis of Chromosomal Instability:

1. Karyotyping: This is a technique used to visualize the entire set of chromosomes in a cell. It can help identify structural abnormalities such as deletions, duplications, or translocations.
2. Fluorescence in situ hybridization (FISH): This technique uses fluorescent probes to detect specific DNA sequences or proteins on chromosomes. It can help identify changes in chromosome structure or number.
3. Array comparative genomic hybridization (aCGH): This technique compares the genetic material of a sample to a reference genome to identify copy number changes.
4. Next-generation sequencing (NGS): This technique can identify point mutations and other genetic changes in DNA.

Treatment and Management of Chromosomal Instability:

1. Cancer treatment: Depending on the type and stage of cancer, treatments such as chemotherapy, radiation therapy, or surgery may be used to eliminate cancer cells with CIN.
2. Prenatal testing: Pregnant women with a family history of CIN can undergo prenatal testing to detect chromosomal abnormalities in their fetuses.
3. Genetic counseling: Individuals with a family history of CIN can consult with a genetic counselor to discuss risk factors and potential testing options.
4. Lifestyle modifications: Making healthy lifestyle choices such as maintaining a balanced diet, exercising regularly, and not smoking can help reduce the risk of developing cancer and other diseases associated with CIN.

In conclusion, chromosomal instability is a common feature of many human diseases, including cancer, and can be caused by a variety of factors. The diagnosis and management of CIN require a multidisciplinary approach that includes cytogenetic analysis, molecular diagnostics, and clinical evaluation. Understanding the causes and consequences of CIN is crucial for developing effective therapies and improving patient outcomes.

The symptoms of chromosome duplication vary depending on the location and number of extra chromosomes present. Some common symptoms include:

* Delayed development and growth
* Intellectual disability
* Speech and language delays
* Physical abnormalities, such as heart defects or facial dysmorphism
* Increased risk of developing certain health problems, such as autism or epilepsy

Chromosome duplication can be diagnosed through a blood test or by analyzing cells from the body. Treatment is based on the specific symptoms and may include speech therapy, physical therapy, medication, or surgery.

Prognosis for individuals with chromosome duplication varies depending on the location and number of extra chromosomes present, as well as the presence of any other genetic conditions. Some individuals with chromosome duplication may have a good prognosis and lead normal lives, while others may experience significant health problems and developmental delays.

In some cases, chromosome duplication can be inherited from one or both parents, who may be carriers of the condition but do not exhibit any symptoms themselves. In other cases, chromosome duplication can occur spontaneously due to a mistake during cell division.

There is currently no cure for chromosome duplication, but early diagnosis and appropriate interventions can help manage symptoms and improve outcomes for affected individuals.

Definition: Isochromosomes are chromosomes that have the same banding pattern and the same number of genes, but differ in size due to variations in the amount of repetitive DNA sequences.

Example: In some cases of cancer, isochromosomes may be present as a result of a chromosomal abnormality. These abnormalities can lead to changes in the expression of genes and potentially contribute to the development and progression of cancer.

Synonyms: Isochromosomes are also known as isochromosomi or isochromosomal aberrations.

Antonyms: There are no direct antonyms for isochromosomes, but related terms that refer to abnormalities in chromosome structure or number include aneuploidy, translocations, and deletions.

PWS is characterized by a range of physical, cognitive, and behavioral symptoms, including:

1. Delayed growth and development: Individuals with PWS often have slowed growth before birth and may be born with low birth weight. They may also experience delayed puberty and short stature compared to their peers.
2. Intellectual disability: Many individuals with PWS have intellectual disability, which can range from mild to severe.
3. Behavioral problems: PWS is often associated with behavioral challenges, such as attention deficit hyperactivity disorder (ADHD), anxiety, and obsessive-compulsive disorder (OCD).
4. Feeding and eating difficulties: Individuals with PWS may have difficulty feeding and swallowing, which can lead to nutritional deficiencies and other health problems. They may also experience a condition called "hyperphagia," which is characterized by excessive hunger and overeating.
5. Sleep disturbances: PWS is often associated with sleep disturbances, such as insomnia and restlessness.
6. Short stature: Individuals with PWS tend to be shorter than their peers, with an average adult height of around 4 feet 10 inches (147 cm).
7. Body composition: PWS is often characterized by a high percentage of body fat, which can increase the risk of obesity and other health problems.
8. Hormonal imbalances: PWS can disrupt the balance of hormones in the body, leading to issues such as hypogonadism (low testosterone levels) and hypothyroidism (underactive thyroid).
9. Dental problems: Individuals with PWS are at increased risk of dental problems, including tooth decay and gum disease.
10. Vision and hearing problems: Some individuals with PWS may experience vision and hearing problems, such as nearsightedness, farsightedness, and hearing loss.

It's important to note that every individual with PWS is unique, and not all will experience all of these symptoms. Additionally, the severity of the disorder can vary widely from person to person. With proper medical care and management, however, many individuals with PWS can lead fulfilling and productive lives.

Polyploidy is a condition where an organism has more than two sets of chromosomes, which are the thread-like structures that carry genetic information. It can occur in both plants and animals, although it is relatively rare in most species. In humans, polyploidy is extremely rare and usually occurs as a result of errors during cell division or abnormal fertilization.

In medicine, polyploidy is often used to describe certain types of cancer, such as breast cancer or colon cancer, that have extra sets of chromosomes. This can lead to the development of more aggressive and difficult-to-treat tumors.

However, not all cases of polyploidy are cancerous. Some individuals with Down syndrome, for example, have an extra copy of chromosome 21, which is a non-cancerous form of polyploidy. Additionally, some people may be born with extra copies of certain genes or chromosomal regions due to errors during embryonic development, which can lead to various health problems but are not cancerous.

Overall, the term "polyploidy" in medicine is used to describe any condition where an organism has more than two sets of chromosomes, regardless of whether it is cancerous or non-cancerous.

Explanation: Genetic predisposition to disease is influenced by multiple factors, including the presence of inherited genetic mutations or variations, environmental factors, and lifestyle choices. The likelihood of developing a particular disease can be increased by inherited genetic mutations that affect the functioning of specific genes or biological pathways. For example, inherited mutations in the BRCA1 and BRCA2 genes increase the risk of developing breast and ovarian cancer.

The expression of genetic predisposition to disease can vary widely, and not all individuals with a genetic predisposition will develop the disease. Additionally, many factors can influence the likelihood of developing a particular disease, such as environmental exposures, lifestyle choices, and other health conditions.

Inheritance patterns: Genetic predisposition to disease can be inherited in an autosomal dominant, autosomal recessive, or multifactorial pattern, depending on the specific disease and the genetic mutations involved. Autosomal dominant inheritance means that a single copy of the mutated gene is enough to cause the disease, while autosomal recessive inheritance requires two copies of the mutated gene. Multifactorial inheritance involves multiple genes and environmental factors contributing to the development of the disease.

Examples of diseases with a known genetic predisposition:

1. Huntington's disease: An autosomal dominant disorder caused by an expansion of a CAG repeat in the Huntingtin gene, leading to progressive neurodegeneration and cognitive decline.
2. Cystic fibrosis: An autosomal recessive disorder caused by mutations in the CFTR gene, leading to respiratory and digestive problems.
3. BRCA1/2-related breast and ovarian cancer: An inherited increased risk of developing breast and ovarian cancer due to mutations in the BRCA1 or BRCA2 genes.
4. Sickle cell anemia: An autosomal recessive disorder caused by a point mutation in the HBB gene, leading to defective hemoglobin production and red blood cell sickling.
5. Type 1 diabetes: An autoimmune disease caused by a combination of genetic and environmental factors, including multiple genes in the HLA complex.

Understanding the genetic basis of disease can help with early detection, prevention, and treatment. For example, genetic testing can identify individuals who are at risk for certain diseases, allowing for earlier intervention and preventive measures. Additionally, understanding the genetic basis of a disease can inform the development of targeted therapies and personalized medicine."


Myeloid leukemia can be classified into several subtypes based on the type of cell involved and the degree of maturity of the abnormal cells. The most common types of myeloid leukemia include:

1. Acute Myeloid Leukemia (AML): This is the most aggressive form of myeloid leukemia, characterized by a rapid progression of immature cells that do not mature or differentiate into normal cells. AML can be further divided into several subtypes based on the presence of certain genetic mutations or chromosomal abnormalities.
2. Chronic Myeloid Leukemia (CML): This is a slower-growing form of myeloid leukemia, characterized by the presence of a genetic abnormality known as the Philadelphia chromosome. CML is typically treated with targeted therapies or bone marrow transplantation.
3. Myelodysplastic Syndrome (MDS): This is a group of disorders characterized by the impaired development of immature blood cells in the bone marrow. MDS can progress to AML if left untreated.
4. Chronic Myelomonocytic Leukemia (CMML): This is a rare form of myeloid leukemia that is characterized by the accumulation of immature monocytes in the blood and bone marrow. CMML can be treated with chemotherapy or bone marrow transplantation.

The symptoms of myeloid leukemia can vary depending on the subtype and severity of the disease. Common symptoms include fatigue, weakness, fever, night sweats, and weight loss. Diagnosis is typically made through a combination of physical examination, blood tests, and bone marrow biopsy. Treatment options for myeloid leukemia can include chemotherapy, targeted therapies, bone marrow transplantation, and supportive care to manage symptoms and prevent complications. The prognosis for myeloid leukemia varies depending on the subtype of the disease and the patient's overall health. With current treatments, many patients with myeloid leukemia can achieve long-term remission or even be cured.

The main symptoms of AS include:

1. Developmental delay: Children with AS typically experience delays in reaching milestones such as sitting, standing, and walking.
2. Intellectual disability: Individuals with AS often have low IQ scores and may have difficulty with language skills, memory, and problem-solving.
3. Happy demeanor: People with AS are known to have a happy, outgoing, and sociable personality.
4. Speech and language difficulties: Individuals with AS may have trouble articulating words and sentences.
5. Motor skills problems: They may experience difficulty with coordination, balance, and fine motor skills.
6. Seizures: About 10% of individuals with AS experience seizures, usually in the form of atonic seizures (also known as drop attacks).
7. Sleep disturbances: Many people with AS have sleep problems, including insomnia and restlessness.
8. Behavioral issues: Some individuals with AS may exhibit behavioral challenges such as hyperactivity, impulsivity, and anxiety.
9. Vision problems: Some people with AS may experience vision difficulties, including strabismus (crossed eyes) and nystagmus (involuntary eye movements).
10. Feeding difficulties: Some individuals with AS may have trouble feeding themselves or experiencing gastrointestinal issues.

There is no cure for Angelman Syndrome, but various therapies can help manage the symptoms and improve the quality of life for individuals affected by the disorder. These may include physical therapy, occupational therapy, speech therapy, and behavioral interventions. Medications such as anticonvulsants and mood stabilizers may also be prescribed to manage seizures and other symptoms.

Also known as Burkitt's Lymphoma.

There are several types of sex chromosome disorders, including:

1. Turner Syndrome: A condition that occurs in females who have only one X chromosome instead of two. This can lead to short stature, infertility, and other health problems.
2. Klinefelter Syndrome: A condition that occurs in males who have an extra X chromosome (XXY). This can lead to tall stature, breast enlargement, and infertility.
3. XXY Syndrome: A condition that occurs in individuals with two X chromosomes and one Y chromosome. This can lead to tall stature, breast enlargement, and fertility problems.
4. XYY Syndrome: A condition that occurs in individuals with an extra Y chromosome (XYY). This can lead to taller stature and fertility problems.
5. Mosaicism: A condition where there is a mixture of normal and abnormal cells in the body, often due to a genetic mutation that occurred during embryonic development.
6. Y chromosome variants: These are variations in the Y chromosome that can affect male fertility or increase the risk of certain health problems.
7. Uniparental disomy: A condition where an individual has two copies of one or more chromosomes, either due to a genetic mutation or because of a mistake during cell division.
8. Structural variations: These are changes in the structure of the sex chromosomes, such as deletions, duplications, or translocations, which can affect gene expression and increase the risk of certain health problems.

Sex chromosome disorders can be diagnosed through chromosomal analysis, which involves analyzing a person's cells to determine their sex chromosome makeup. Treatment for these disorders varies depending on the specific condition and may include hormone therapy, surgery, or other medical interventions.

Types of Craniofacial Abnormalities:

1. Cleft lip and palate: A congenital deformity that affects the upper jaw, nose, and mouth.
2. Premature fusion of skull bones: Can result in an abnormally shaped head or face.
3. Distraction osteogenesis: A condition where the bones fail to grow properly, leading to abnormal growth patterns.
4. Facial asymmetry: A condition where one side of the face is smaller or larger than the other.
5. Craniosynostosis: A condition where the skull bones fuse together too early, causing an abnormally shaped head.
6. Micrognathia: A condition where the lower jaw is smaller than normal, which can affect breathing and feeding.
7. Macroglossia: A condition where the tongue is larger than normal, which can cause difficulty swallowing and breathing.
8. Oculofacial dysostosis: A condition that affects the development of the eyes and face.
9. Treacher Collins syndrome: A rare genetic disorder that affects the development of the face, particularly the eyes, ears, and jaw.

Causes of Craniofacial Abnormalities:

1. Genetics: Many craniofacial abnormalities are inherited from one or both parents.
2. Environmental factors: Exposure to certain drugs, alcohol, or infections during pregnancy can increase the risk of craniofacial abnormalities.
3. Premature birth: Babies born prematurely are at a higher risk for craniofacial abnormalities.
4. Trauma: Head injuries or other traumatic events can cause craniofacial abnormalities.
5. Infections: Certain infections, such as meningitis or encephalitis, can cause craniofacial abnormalities.

Treatment of Craniofacial Abnormalities:

1. Surgery: Many craniofacial abnormalities can be treated with surgery to correct the underlying deformity.
2. Orthodontic treatment: Braces or other orthodontic devices can be used to align teeth and improve the appearance of the face.
3. Speech therapy: Certain craniofacial abnormalities, such as micrognathia, can affect speech development. Speech therapy can help improve communication skills.
4. Medication: In some cases, medication may be prescribed to manage symptoms associated with craniofacial abnormalities, such as pain or breathing difficulties.
5. Rehabilitation: Physical therapy and occupational therapy can help individuals with craniofacial abnormalities regain function and mobility after surgery or other treatments.

It is important to note that the treatment of craniofacial abnormalities varies depending on the specific condition and its severity. A healthcare professional, such as a pediatrician, orthodontist, or plastic surgeon, should be consulted for proper diagnosis and treatment.

It is also important to remember that craniofacial abnormalities can have a significant impact on an individual's quality of life, affecting their self-esteem, social relationships, and ability to function in daily activities. Therefore, it is essential to provide appropriate support and resources for individuals with these conditions, including psychological counseling, social support groups, and education about the condition.

Types of Uniparental Disomy:

There are two types of UPD:

1. Uniparental disomy 22 (UPD(22): This type is caused by a deletion of one copy of chromosome 22, resulting in an individual having only one copy of the entire chromosome or a portion of it.
2. Uniparental disomy 15 (UPD(15): This type is caused by a deletion of one copy of chromosome 15, resulting in an individual having only one copy of the entire chromosome or a portion of it.

Causes and Symptoms:

The causes of UPD are not well understood, but it is believed that it may be caused by errors during cell division or the fusion of cells. Symptoms of UPD can vary depending on the location and size of the deleted chromosome material, but they may include:

1. Developmental delays
2. Intellectual disability
3. Speech and language difficulties
4. Behavioral problems
5. Dysmorphic features (physical abnormalities)
6. Congenital anomalies (birth defects)
7. Increased risk of infections and autoimmune disorders
8. Short stature
9. Skeletal abnormalities
10. Cardiac defects

Diagnosis and Treatment:

The diagnosis of UPD is based on a combination of clinical features, chromosomal analysis, and molecular genetic testing. Treatment for UPD is focused on managing the symptoms and addressing any underlying medical issues. This may include:

1. Speech and language therapy
2. Occupational therapy
3. Physical therapy
4. Medications to manage behavioral problems or seizures
5. Surgery to correct physical abnormalities or congenital anomalies
6. Infection prophylaxis (to prevent infections)
7. Immunoglobulin replacement therapy (to boost the immune system)
8. Antibiotics (to treat infections)
9. Cardiac management (to address any heart defects)

Prenatal Diagnosis:

UPD can be diagnosed prenatally using chorionic villus sampling or amniocentesis, which involve analyzing a sample of cells from the placenta or amniotic fluid. This allows parents to prepare for the possibility of a child with UPD and to make informed decisions about their pregnancy.

Counseling and Psychosocial Support:

UPD can have significant psychosocial implications for families, including anxiety, depression, and social isolation. It is essential to provide counseling and psychosocial support to parents and families to help them cope with the diagnosis and manage the challenges of raising a child with UPD.

Genetic Counseling:

UPD can be inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene is enough to cause the condition. Genetic counseling can help families understand the risk of recurrence and make informed decisions about their reproductive options.

Rehabilitation and Therapy:

Children with UPD may require ongoing therapy and rehabilitation to address physical, cognitive, and behavioral challenges. This may include occupational therapy, speech therapy, and physical therapy.

Parental Support Groups:

Support groups for parents of children with UPD can provide a valuable source of information, emotional support, and practical advice. These groups can help families connect with others who are facing similar challenges and can help them feel less isolated and more empowered to navigate the complexities of raising a child with UPD.

In conclusion, the diagnosis of UPD can have significant implications for individuals and families. By understanding the causes, symptoms, diagnosis, treatment, and management options, healthcare providers can provide comprehensive care and support to those affected by this condition. Additionally, counseling, psychosocial support, genetic counseling, rehabilitation, and therapy can all play important roles in helping families navigate the challenges of UPD and improving the quality of life for individuals with this condition.

Turner syndrome occurs in approximately 1 in every 2,500 to 3,000 live female births and is more common in girls born to older mothers. The symptoms of Turner syndrome can vary widely and may include:

* Short stature and delayed growth and development
* Infertility or lack of menstruation (amenorrhea)
* Heart defects, such as a narrowed aorta or a hole in the heart
* Eye problems, such as cataracts, glaucoma, or crossed eyes
* Hearing loss or deafness
* Bone and joint problems, such as scoliosis or clubfoot
* Cognitive impairments, including learning disabilities and memory problems
* Delayed speech and language development
* Poor immune function, leading to recurrent infections

Turner syndrome is usually diagnosed at birth or during childhood, based on physical characteristics such as short stature, low muscle tone, or heart defects. Chromosomal analysis can also confirm the diagnosis.

There is no cure for Turner syndrome, but treatment can help manage the symptoms and improve quality of life. Hormone replacement therapy may be used to stimulate growth and development in children, while adults with the condition may require ongoing hormone therapy to maintain bone density and prevent osteoporosis. Surgery may be necessary to correct heart defects or other physical abnormalities. Speech and language therapy can help improve communication skills, and cognitive training may be beneficial for learning disabilities.

The long-term outlook for individuals with Turner syndrome varies depending on the severity of the condition and the presence of any additional health problems. With proper medical care and support, many women with Turner syndrome can lead fulfilling lives, but they may face unique challenges related to fertility, heart health, and other issues.

The BCR-ABL gene is a fusion gene that is present in the majority of cases of CML. It is created by the translocation of two genes, called BCR and ABL, which leads to the production of a constitutively active tyrosine kinase protein that promotes the growth and proliferation of abnormal white blood cells.

There are three main phases of CML, each with distinct clinical and laboratory features:

1. Chronic phase: This is the earliest phase of CML, where patients may be asymptomatic or have mild symptoms such as fatigue, night sweats, and splenomegaly (enlargement of the spleen). The peripheral blood count typically shows a high number of blasts in the blood, but the bone marrow is still functional.
2. Accelerated phase: In this phase, the disease progresses to a higher number of blasts in the blood and bone marrow, with evidence of more aggressive disease. Patients may experience symptoms such as fever, weight loss, and pain in the joints or abdomen.
3. Blast phase: This is the most advanced phase of CML, where there is a high number of blasts in the blood and bone marrow, with significant loss of function of the bone marrow. Patients are often symptomatic and may have evidence of spread of the disease to other organs, such as the liver or spleen.

Treatment for CML typically involves targeted therapy with drugs that inhibit the activity of the BCR-ABL protein, such as imatinib (Gleevec), dasatinib (Sprycel), or nilotinib (Tasigna). These drugs can slow or stop the progression of the disease, and may also produce a complete cytogenetic response, which is defined as the absence of all Ph+ metaphases in the bone marrow. However, these drugs are not curative and may have significant side effects. Allogenic hematopoietic stem cell transplantation (HSCT) is also a potential treatment option for CML, but it carries significant risks and is usually reserved for patients who are in the blast phase of the disease or have failed other treatments.

In summary, the clinical course of CML can be divided into three phases based on the number of blasts in the blood and bone marrow, and treatment options vary depending on the phase of the disease. It is important for patients with CML to receive regular monitoring and follow-up care to assess their response to treatment and detect any signs of disease progression.

There are many different types of congenital foot deformities, including:

1. Clubfoot (also known as talipes equinovarus): This is a condition in which the foot is twisted inward and downward, so that the heel is next to the ankle bone and the toes are pointing upwards.
2. Cavus foot (also known as high arch foot): This is a condition in which the arch of the foot is raised and rigid, making it difficult to walk or stand.
3. Flatfoot (also known as fallen arch foot): This is a condition in which the arch of the foot is low or nonexistent, causing the foot to appear flat.
4. Metatarsus adductus: This is a condition in which the forefoot is turned inward so that the toes are pointing towards the other foot.
5. Cleft foot: This is a rare condition in which the foot is misshapen and has a cleft or divide in the soft tissue.
6. Polydactyly (extra digits): This is a condition in which there are extra toes or fingers present.
7. Posterior tibial dysfunction: This is a condition in which the tendon that supports the arch of the foot is weakened or injured, leading to a flatfoot deformity.
8. Hereditary conditions: Some congenital foot deformities can be inherited from parents or grandparents.
9. Genetic syndromes: Certain genetic syndromes, such as Down syndrome, can increase the risk of developing congenital foot deformities.
10. Environmental factors: Exposure to certain medications or chemicals during pregnancy can increase the risk of congenital foot deformities.

Congenital foot deformities can be diagnosed through a physical examination, X-rays, and other imaging tests. Treatment options depend on the specific type and severity of the deformity, but may include:

1. Observation and monitoring: Mild cases of congenital foot deformities may not require immediate treatment and can be monitored with regular check-ups to see if any changes occur.
2. Orthotics and shoe inserts: Customized shoe inserts or orthotics can help redistribute pressure and support the foot in a more neutral position.
3. Casting or bracing: In some cases, casting or bracing may be used to help straighten the foot and promote proper alignment.
4. Surgery: In severe cases of congenital foot deformities, surgery may be necessary to correct the deformity. This can involve cutting or realigning bones, tendons, or other soft tissue to achieve a more normal foot position.
5. Physical therapy: After treatment, physical therapy may be recommended to help improve strength and range of motion in the affected foot.

The primary symptoms of DiGeorge syndrome include:

1. Cleft palate or other congenital facial abnormalities
2. Heart defects, such as Tetralogy of Fallot
3. Developmental delays and learning disabilities
4. Speech difficulties
5. Hearing loss
6. Vision problems
7. Immune system dysfunction
8. Thyroid gland abnormalities
9. Kidney and urinary tract defects
10. Increased risk of infections

DiGeorge syndrome is caused by a genetic mutation that occurs sporadically, meaning it is not inherited from either parent. The condition is usually diagnosed during infancy or early childhood, based on the presence of distinctive physical features and developmental delays. Treatment for DiGeorge syndrome typically involves managing the associated symptoms and developmental delays through a combination of medical interventions, therapies, and special education. With appropriate support and care, individuals with DiGeorge syndrome can lead fulfilling lives, although they may require ongoing medical attention throughout their lives.

There are several types of genomic instability, including:

1. Chromosomal instability (CIN): This refers to changes in the number or structure of chromosomes, such as aneuploidy (having an abnormal number of chromosomes) or translocations (the movement of genetic material between chromosomes).
2. Point mutations: These are changes in a single base pair in the DNA sequence.
3. Insertions and deletions: These are changes in the number of base pairs in the DNA sequence, resulting in the insertion or deletion of one or more base pairs.
4. Genomic rearrangements: These are changes in the structure of the genome, such as chromosomal breaks and reunions, or the movement of genetic material between chromosomes.

Genomic instability can arise from a variety of sources, including environmental factors, errors during DNA replication and repair, and genetic mutations. It is often associated with cancer, as cancer cells have high levels of genomic instability, which can lead to the development of resistance to chemotherapy and radiation therapy.

Research into genomic instability has led to a greater understanding of the mechanisms underlying cancer and other diseases, and has also spurred the development of new therapeutic strategies, such as targeted therapies and immunotherapies.

In summary, genomic instability is a key feature of cancer cells and is associated with various diseases, including cancer, neurodegenerative disorders, and aging. It can arise from a variety of sources and is the subject of ongoing research in the field of molecular biology.

Down syndrome can be diagnosed before birth through prenatal testing, such as chorionic villus sampling or amniocentesis, or after birth through a blood test. The symptoms of Down syndrome can vary from person to person, but common physical features include:

* A flat face with a short neck and small ears
* A short stature
* A wide, short hands with short fingers
* A small head
* Almond-shaped eyes that are slanted upward
* A single crease in the palm of the hand

People with Down syndrome may also have cognitive delays and intellectual disability, as well as increased risk of certain medical conditions such as heart defects, gastrointestinal problems, and hearing and vision loss.

There is no cure for Down syndrome, but early intervention and proper medical care can greatly improve the quality of life for individuals with the condition. Treatment may include speech and language therapy, occupational therapy, physical therapy, and special education programs. With appropriate support and resources, people with Down syndrome can lead fulfilling and productive lives.

Congenital hand deformities are present at birth and can be caused by genetic mutations or environmental factors during fetal development. They can affect any part of the hand, including the fingers, thumb, or wrist. Some common congenital hand deformities include:

1. Clubhand: A deformity characterized by a shortened hand with the fingers and thumb all bent towards the palm.
2. Clinodactyly: A deformity characterized by a curved or bent finger.
3. Postaxial polydactyly: A deformity characterized by an extra digit on the little finger side of the hand.
4. Preaxial polydactyly: A deformity characterized by an extra digit on the thumb side of the hand.
5. Symbrachydactyly: A deformity characterized by a shortened or missing hand with no or only a few fingers.

The symptoms of congenital hand deformities can vary depending on the type and severity of the deformity. Some common symptoms include:

1. Limited range of motion in the affected hand.
2. Difficulty grasping or holding objects.
3. Pain or stiffness in the affected hand.
4. Abnormal finger or thumb position.
5. Aesthetic concerns.

The diagnosis of congenital hand deformities is usually made through a combination of physical examination, medical history, and imaging studies such as X-rays or ultrasound. Treatment options for congenital hand deformities can vary depending on the type and severity of the deformity and may include:

1. Surgery to correct the deformity.
2. Physical therapy to improve range of motion and strength.
3. Bracing or splinting to support the affected hand.
4. Orthotics or assistive devices to help with daily activities.
5. Medications to manage pain or inflammation.

It is important to seek medical attention if you suspect that your child may have a congenital hand deformity, as early diagnosis and treatment can improve outcomes and reduce the risk of complications.

The disorder is caused by mutations in the GDF6 gene, which plays a crucial role in the development of the skeleton during embryonic life. The mutations lead to a deficiency of a protein called GDF6, which is important for the proper formation and maintenance of the long bones.

Campomelic dysplasia typically becomes apparent at birth or during early childhood, and the symptoms can vary in severity. In addition to short stature and bowed legs, affected individuals may have other skeletal abnormalities such as clubfoot, knock knees, or scoliosis. They may also experience joint pain and stiffness, particularly in the hips and knees.

There is no cure for campomelic dysplasia, but treatment can help manage the symptoms. Physical therapy, braces, and surgery may be recommended to improve joint mobility and straighten the limbs. In some cases, medications such as bisphosphonates may be prescribed to help strengthen bones and reduce pain.

Campomelic dysplasia is a rare disorder, and its prevalence is not well established. However, it is estimated to affect approximately 1 in 1 million individuals worldwide. The disorder can occur in individuals of any ethnicity, but it appears to be more common in certain populations such as the Amish and Mennonite communities.

In summary, campomelic dysplasia is a rare genetic disorder that affects the development of the skeleton, leading to short stature, bowed legs, and other skeletal abnormalities. While there is no cure for the disorder, treatment can help manage the symptoms and improve quality of life.

Increasingly, microarray analysis is also being used to clarify breakpoints. Prenatal diagnosis is possible via amniocentesis ... A ring-shaped chromosome is the result. In the case of ring 18, one of the two copies of chromosome 18 has formed a ring. ... Ring chromosome 18 is a genetic condition caused by a deletion of the two ends of chromosome 18 followed by the formation of a ... The phrase "ring 18" refers to the shape that the normally linear chromosome assumes when one tip of the chromosome joins the ...
discovered a breakpoint in chromosome region 7q31. Additional characterization identified that IMMP2L, a novel gene coding for ... The human IMMP2L gene has 18 exons and locates at chromosome band 7q31. The human protein inner mitochondrial membrane ... was found to be disrupted by both the breakpoint in the duplicated fragment and the insertion site in 7q31. It is the first ... by a breakpoint in 7q31 associated with Tourette syndrome". American Journal of Human Genetics. 68 (4): 848-58. doi:10.1086/ ...
... occur at different breakpoints; the chromosomal basis generally consists of a deletion on the short arm of chromosome 5. The ... One of them consists in micro-deletions of the chromosome region 15q11-q13. 70% of patients present a 5-7-Mb de novo deletion ... The mechanism is due to maternal meiotic non-disjunction followed by mitotic loss of the paternal chromosome 15 after ... The third cause for PWS is the disruption of the imprinting process on the paternally inherited chromosome 15 (epigenetic ...
The product of this gene belongs to the family of highly homologous synovial sarcoma, X (SSX) breakpoint proteins. These ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome X, All stub articles, ... "Entrez Gene: SSX5 synovial sarcoma, X breakpoint 5". dos Santos NR, de Bruijn DR, van Kessel AG (January 2001). "Molecular ... Chromosomes & Cancer. 34 (3): 285-98. doi:10.1002/gcc.10073. PMID 12007189. S2CID 11734893. Güre AO, Wei IJ, Old LJ, Chen YT ( ...
Chromosome Xp11 contains a segmental duplication resulting in two identical copies of synovial sarcoma, X breakpoint 4, SSX4 ... This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on ... The product of this gene belongs to the family of highly homologous synovial sarcoma, X (SSX) breakpoint proteins. These ... "Entrez Gene: SSX4 synovial sarcoma, X breakpoint 4". dos Santos NR, de Bruijn DR, van Kessel AG (2001). "Molecular mechanisms ...
"Molecular analysis of acute promyelocytic leukemia breakpoint cluster region on chromosome 17". Science. 249 (4976): 1577-80. ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 17, Wikipedia articles ... "High-density genetic map of the BRCA1 region of chromosome 17q12-q21". Genomics. 17 (3): 618-23. doi:10.1006/geno.1993.1381. ...
Position effect conferred by the W32 X-chromosome breakpoint. Salkoff also combined voltage-clamp technique with genetic ... Based on these findings Salkoff began a genomic DNA "walk" along the chromosome to clone the Shaker gene in conjunction with ... This study showing the location of the Shaker gene on the physical chromosome map facilitated the cloning of the Shaker ... and position effect mutations where a breakpoint near the gene reduces expression of a normal gene product. All three classes ...
Six affected females had selective inactivation of the normal X chromosome, whereas 3 had random X inactivation. Breakpoints ... Xp11.2 duplication is a genomic variation marked by the duplication of an X chromosome region on the short arm p at position ... Most affected females show preferential activation of the duplicated X chromosome. Features of affected individuals vary ... 2009) identified 8 (0.33%) unrelated individuals, 2 males and 6 females, with a microduplication at chromosome Xp11.23-p11.22. ...
The majority of deletions have breakpoints between 45,405,887 and the tip of the chromosome. There are no common breakpoints, ... which typically have a breakpoint distal to 18q21.1 (45.4 Mb) and extend to the end of the chromosome. If possible, it is ... A routine chromosome analysis, or karyotype, is usually used to make the initial diagnosis, although it may also be made by ... Suspicion of a chromosome abnormality is typically raised due to the presence of developmental delays or birth defects. ...
The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein ... "Entrez Gene: Breakpoint cluster region". "Entrez Gene: BCR breakpoint cluster region". Zhao X, Ghaffari S, Lodish H, ... A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients ... the gene at the chromosome 9 breakpoint. The BCR-ABL oncoprotein oligomerisation domain found at the N-terminus of BCR is ...
... tissue-specific ets-related genes on chromosomes X and 14 near translocation breakpoints". Science. 244 (4900): 66-70. Bibcode: ... Articles with short description, Short description matches Wikidata, Genes on human chromosome X, Transcription factors). ...
... of chromosome 9 and region (1), band (1), sub-band (2) of the long arm (q) of chromosome 22. Hence the chromosome breakpoints ... This gene is the ABL1 gene of chromosome 9 juxtaposed onto the breakpoint cluster region BCR gene of chromosome 22, coding for ... The Philadelphia chromosome is designated Ph (or Ph') chromosome and designates the shortened chromosome 22 which encodes the ... creating an elongated chromosome 9 (termed a derivative chromosome, or der 9), and a truncated chromosome 22 (the Philadelphia ...
The most common breakpoint in patients is in the q13.33 region of chromosome 20. As chromosomes occur in pairs, the affected ... Ring chromosome 20, ring-shaped chromosome 20 or r(20) syndrome is a rare human chromosome abnormality where the two arms of ... A chromosome has two arms, one long and one short. Deletion of the short arm of chromosome 20 does not appear to result in ... Rather than the typical linear pattern of a chromosome, deletion of the endings of a chromosome can lead to ring formation. ...
1984). "Philadelphia chromosomal breakpoints are clustered within a limited region, bcr, on chromosome 22". Cell. 36 (1): 93-9 ... v t e (Genes on human chromosome 22, All stub articles, Protein stubs, Pseudogenes). ...
1984). "Philadelphia chromosomal breakpoints are clustered within a limited region, bcr, on chromosome 22". Cell. 36 (1): 93-9 ... 1987). "The chronic myelocytic cell line K562 contains a breakpoint in bcr and produces a chimeric bcr/c-abl transcript". Mol. ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 9, All stub articles, ... 1984). "Localization of the c-ab1 oncogene adjacent to a translocation break point in chronic myelocytic leukaemia". Nature. ...
"Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8". Human Genetics. 105 (6): 619-28 ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 8, Wikipedia articles ... "A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location ...
An isochromosome can be abbreviated as i(chromosome number)(centromeric breakpoint). For example, an isochromosome of ... Regardless of the chromosome involved in U-type exchange, the acentric fragment of the chromosome is lost, thus creating a ... Acrocentric autosomal chromosomes 13, 14, 15, 21, and 22 are also common candidates for isochromosome formation. Chromosomes ... The chromosome consists of two copies of either the long (q) arm or the short (p) arm because isochromosome formation is ...
Neuroblastoma breakpoint family member 19, or NBPF19, is a protein that in humans is encoded by the NBPF19 gene. This protein ... It is located on the positive strand of chromosome 1 at locus 1q21.2. EST profiling of NBPF19 shows it to be ubiquitously ... "neuroblastoma breakpoint family member 19 [Homo sapiens] - Protein - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-05-05. EMBL- ... NBPF19 is one of 26 identified members of the neuroblastoma breakpoint family of proteins in humans. Sequence similarity among ...
... is caused by the deletion of the most distal light band of the short arm of chromosome 1. The ... 40 percent of all breakpoints occur 3 to 5 million base pairs from the telomere. The size of the deletion ranges from ... "OMIM Entry - # 607872 - CHROMOSOME 1p36 DELETION SYNDROME". www.omim.org. Retrieved 19 September 2018. Jordan VK, Zaveri HP, ... "Chromosome 1p36 deletion syndrome , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info. ...
"Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH". ... Genes, Chromosomes & Cancer. 44 (3): 305-19. doi:10.1002/gcc.20243. PMID 16075461. S2CID 39437458. Svensson V, Vento-Tormo R, ...
"Cloning of the chromosome breakpoint of neoplastic B cells with the t(14;18) chromosome translocation". Science. 226 (4678): ... which places the Bcl-2 gene from chromosome 18 next to the immunoglobulin heavy chain locus on chromosome 14. This fusion gene ... In follicular lymphoma, a chromosomal translocation commonly occurs between the fourteenth and the eighteenth chromosomes - t( ... Genes on human chromosome 18, All articles with unsourced statements, Articles with unsourced statements from January 2017, ...
Crossen PE, Kennedy MA, Heaton DC, Morrison MJ (September 1993). "Cloning and sequencing of a t(14;19) breakpoint that involves ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 19). ... the C mu switch region". Genes, Chromosomes & Cancer. 8 (1): 60-62. doi:10.1002/gcc.2870080110. PMID 7691160. S2CID 85217954. ...
... showed by high density and clustered breakpoints) which suggests that chromosomes need to be condensed e.g. in mitosis for ... Cells with defective chromosome segregation will form micronuclei which contain whole chromosomes or fragments of chromosomes. ... The resulting fragmented chromosome segments can be joined together to give rise to a rearranged chromosome, which can ... When multiple chromosomes are involved in chromothripsis, fragments of both chromosomes are joined together by paired end ...
... describes a deletion of the short arm of chromosome 18. About half of the people with deletions have a breakpoint at the ... A routine chromosome analysis, or karyotype, is usually used to make the initial diagnosis, although it may also be made by ... 18p- is a genetic condition caused by a deletion of all or part of the short arm (the p arm) of chromosome 18. It occurs in ... There does not appear to be a specific type of heart defect associated with a deletion of the short arm of chromosome 18. ...
Three of the patients reported had a consistent proximal breakpoint on chromosome 2, but varying distal breakpoints. The ... 2p15-16.1 microdeletion is an extremely rare genetic disorder caused by a small deletion in the short arm of human chromosome 2 ...
"Identification of the TCL6 genes within the breakpoint cluster region on chromosome 14q32 in T-cell leukemia". Oncogene. 19 (23 ... It is expressed in T-cell leukemia with a t(14;14)(q11;q32.1) chromosome translocation in humans and in a mouse model. It is ...
An inversion is a chromosome rearrangement in which a segment of a chromosome is reversed end-to-end. An inversion occurs when ... Pericentric inversions include the centromere, and there is a break point in each arm. Cytogenetic techniques may be able to ... His height is caused by an inversion of chromosome 12. Painter TS (1933). "A new method for the study of chromosome ... In insects with polytene chromosomes (for example, Drosophila), preparations of larval salivary gland chromosomes allow ...
One 900 kb inversion in the chromosome 17 is under positive selection and are predicted to increase its frequency in European ... In that system, both "inner" and "outer" coordinates are shown; they are both not actual breakpoints, but surmised minimal and ... Genomic structural variation is the variation in structure of an organism's chromosome. It consists of many kinds of variation ... Wyandt, H. E.; Tonk, V. S. (2004). Atlas of Human Chromosome Heteromorphisms. Netherlands: Kluwer Academic. ISBN 978-90-481- ...
Aneuploidy occurs when nondisjunction at a single chromosome results in an abnormal number of chromosomes. Aneuploidy is often ... Ectopic recombination is typically mediated by sequence similarity at the duplicate breakpoints, which form direct repeats. ... symbols and abbreviated terms used in the description of human chromosome and chromosome abnormalities. Abbreviations include ... The chance of it happening is a function of the degree of sharing of repetitive elements between two chromosomes. The products ...
"Entrez Gene: SSX1 synovial sarcoma, X breakpoint 1". Crew AJ, Clark J, Fisher C, et al. (1995). "Fusion of SYT to two genes, ... This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on ... The product of this gene belongs to the family of highly homologous synovial sarcoma, X (SSX) breakpoint proteins. These ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome X, All stub articles, ...
... breakpoint cluster region) gene on chromosome 22. This new fusion gene, BCR-ABL, encodes an unregulated, cytoplasm-targeted ... This gene is a partner in a fusion gene with the BCR gene in the Philadelphia chromosome, a characteristic abnormality in ... Portal: Biology (Articles with short description, Short description is different from Wikidata, Genes on human chromosome 9, ... located on chromosome 9. c-Abl is sometimes used to refer to the version of the gene found within the mammalian genome, while v ...
In addition, higher breakpoint densities were consistently observed within GC-skewed regions and in the close vicinity of the ... Medusozoa and calcarea clades however have species with linear mitochondrial chromosomes. In terms of base pairs, the anemone ... Deletion breakpoints frequently occur within or near regions showing non-canonical (non-B) conformations, namely hairpins, ... The genome of the mitochondrion of the cucumber (Cucumis sativus) consists of three circular chromosomes (lengths 1556, 84 and ...
v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 4, All stub articles, ... close to translocation breakpoints in multiple myeloma, and is upregulated in various cancer cell lines". Genomics. 58 (2): 165 ... "The transforming acidic coiled coil 3 protein is essential for spindle-dependent chromosome alignment and mitotic survival". J ...
Locus-specific probes are made for one side of the breakpoint and the other intact chromosome. In normal cells, the secondary ... have similar chromosomes but with increasing distance chromosomes tend to break and fuse and thus result in mosaic chromosomes ... FISH can be used to study the evolution of chromosomes. Species that are related have similar chromosomes. This homology can be ... Probes that hybridize along an entire chromosome are used to count the number of a certain chromosome, show translocations, or ...
Earlier studies on chromosome 21 and 22 showed the power of tiling arrays for identifying transcription units. The authors used ... On the other hand, fine-tiled array CGH would produce ultrahigh resolution to find other abnormalities such as breakpoints. ... Finally, arrays usually give only chromosome and position numbers, often necessitating sequencing as a separate step (although ... Chromosome Research. 13 (3): 259-74. doi:10.1007/s10577-005-2165-0. PMID 15868420. S2CID 24058431. Cawley, S; Bekiranov, S; Ng ...
... chromosome 1) to smallest (chromosome 22), with the sex chromosomes (X and Y) shown last. Historically, karyotypes have been ... Kulharya AS, Flannery DB, Norris K, Lovell C, Levy B, Velagaleti G (September 2008). "Fine mapping of breakpoints in two ... These include: A translocation between chromosomes 9 and 22, known as the Philadelphia chromosome, occurs in about 20% of adult ... Gains on chromosomes 6 and 8 are often used to refine the predictive value of the Monosomy 3 screen, with gain of 6p indicating ...
One example of a chimera in normal human cells is generated by trans-splicing of the 5′ exons of the JAZF1 gene on chromosome ... Novo, FJ; de Mendíbil, IO; Vizmanos, JL (Jan 26, 2007). "TICdb: a collection of gene-mapped translocation breakpoints in cancer ... end of the breakpoint cluster region protein (BCR) gene and the 3′ end of the Abelson murine leukemia viral oncogene homolog 1 ... Chromosomes and Cancer. 52 (8): 733-740. doi:10.1002/gcc.22068. PMID 23630070. S2CID 28377909. Koontz, J. I.; Soreng, A. L.; ...
... has been shown to interact with Estrogen receptor alpha, RIT2 and Ewing sarcoma breakpoint region 1. BRN-3 GRCh38: ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 13, Wikipedia articles ...
... deletion of the short arm of chromosome 7, or partial deletions of chromosome 5. In addition, it has been shown that ... This can lead to aberrant expression of EVI1, and, as shown in the figure below, commonly involved chromosomal breakpoints have ... The EVI1 gene is located in the human genome on chromosome 3 (3q26.2). The gene spans 60 kilobases and encodes 16 exons, 10 of ... Since it was first identified in murine myeloid leukemia as a common site of retroviral integration into the chromosome, EVI1 ...
The human FIP1L1 gene is located on chromosome 4 at position q12 (4q12), contains 19 exons, and codes for a complete protein ... end of PGDFRA at variable breakpoints in both genes extending over a 40 kilobase region in FIP1L1 and a small region of exon 12 ... RARA, the Retinoic acid receptor alpha gene, is located on human chromosome 17 at position q21.2 (i.e. 17q21.2), consists of 17 ... Three case reports have found that chromosome translocations between FIP1L1 and RARA gene loci are associated with two cases of ...
In humans, it is located on chromosome 22q11, at the ADU breakpoint associated with DiGeorge syndrome. Its expression is ... "Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping". DNA Research. 8 (1): 1 ... Genes on human chromosome 22, Non-coding RNA). ...
Listed below are some specific tasks this method can carry out: Targeted gene mutation Gene therapy Creating chromosome ... while the more accurate HDR uses a homologous sequence as a template for regeneration of missing DNA sequences at the break ... This method uses pseudo-complementary peptide nucleic acid (pcPNA), for identifying cleavage site within the chromosome. Once ...
... spanning the chromosome 3p14.2 fragile site and renal carcinoma-associated t(3;8) breakpoint, is abnormal in digestive tract ... v t e (CS1: long volume value, Genes on human chromosome 3, All stub articles, Human chromosome 3 gene stubs). ... The gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations ...
... binds and dimethylates Ewing sarcoma breakpoint region 1 (EWS) protein. Model organisms have been used in the study of ... v t e (Human proteins, Genes mutated in mice, All stub articles, Human chromosome 12 gene stubs). ...
For example, the t(9;22) BCR-ABL translocation may occur over a large length of the chromosome which makes DNA-based testing ... breakpoints, and detection method validity". Leuk. Res. 30 (6): 745-50. doi:10.1016/j.leukres.2005.10.001. PMID 16297448. Cavé ...
The gene for G-CSF is located on chromosome 17, locus q11.2-q12. Nagata et al. found that the GCSF gene has 4 introns, and that ... "Chromosomal localization of the human G-CSF gene to 17q11 proximal to the breakpoint of the t(15;17) in acute promyelocytic ... Portal: Biology (Articles with short description, Short description matches Wikidata, Genes on human chromosome 17, Growth ... "Localization of the human G-CSF gene to the region of a breakpoint in the translocation typical of acute promyelocytic leukemia ...
... including groups with the chromosome rearrangements inv(16)(p13q22) and t(8;21)(q22;q22). The chromosome translocation t(8;21)( ... October 1992). "Identification of breakpoints in t(8;21) acute myelogenous leukemia and isolation of a fusion transcript, AML1/ ... The chromosome translocation t(12;21) (p13.1;q22) causes the fusion of the ETS variant 6 (ETV6) and RUNX1 genes results in ETV6 ... The pericentric chromosome inversion inv(16)(p13q22) creates the CBFB-MYH11 fusion gene, which encodes the CBFβ-SMMHC fusion ...
Bittel DC, Kibiryeva N, Butler MG (2006). "Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral ... v t e (Genes on human chromosome 15, All stub articles, Human chromosome 15 gene stubs). ... 2003). "Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman ...
In humans, the gene FANCA is 79 kilobases (kb) in length, and is located on chromosome 16 (16q24.3). The FANCA protein is ... These large deletions have a high correlation with specific breakpoints and arise as a result of Alu mediated recombination. A ... FANCA proteins are involved in inter-strand DNA cross-link repair and in the maintenance of normal chromosome stability that ... This is the stage when chromosomes are fully synapsed, and Holliday junctions are formed and then resolved into recombinants. ...
Diagnosis relies on cytogenetic analyses to detect breakpoints in the long arm of chromosome 5 by Fluorescence in situ ... Human chromosome translocations between the PDGFRB gene and at least any one of 30 genes on other chromosomes lead to myeloid ... The gene is located on human chromosome 12 at the p13 position, consists of 14 exons, and is well-known to be involved in a ... The PDGFRB gene is located on human chromosome 5 at position q32 (designated as 5q32) and contains 25 exons. The gene is ...
At this point the chromosomes are composed of nascent strands with BrdU in place of thymidine and the original template strands ... Since scTRIP does not require reads (or read pairs) transversing the boundaries (or breakpoints) of structural variants in ... In experiments used to study non-random chromosome assortment, stem cells are labeled or "pulsed" with a nucleotide analog that ... Contigs present in the same chromosome will exhibit the same directionality, provided SCE events have not occurred. Conversely ...
A chromosomal fragile site is a specific heritable point on a chromosome that tends to form a gap or constriction and may tend ... High frequency of deletions at breakpoints within these fragile sites has been associated with many cancers, including breast, ... Common fragile sites are considered part of normal chromosome structure and are present in all (or nearly all) individuals in a ... Sutherland, GR; Baker, E; Seshadri, RS (Jul 1980). "Heritable fragile sites on human chromosomes. V. A new class of fragile ...
v t e (Genes on human chromosome 6, All stub articles, Human chromosome 6 gene stubs). ... "Cloning and characterization of an inversion breakpoint at 6q23.3 suggests a role for Map7 in sacral dysgenesis". Cytogenet. ...
Inositol-hexakisphosphate kinase v t e (Genes on human chromosome 3, All stub articles, Human chromosome 3 gene stubs). ... 2004). "The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus". J. Hum. ... White KE, Econs MJ (1998). "Localization of PiUS, a stimulator of cellular phosphate uptake to human chromosome 3p21.3". Somat ...
... is a protein that in humans is encoded by the SHANK3 gene on chromosome 22. Additional isoforms have been described for this ... "Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome". Journal of Medical Genetics ... "Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping". DNA Research. 8 (1): 1 ...
Typically, chromosome 4 includes between 11 and 150 D4Z4 repeats. In FSHD1, there are 1-10 D4Z4 repeats. The number of repeats ... "High resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder ... The mechanism of failed DUX4 repression is hypomethylation of DUX4 and its surrounding DNA on the tip of chromosome 4 (4q35), ... The significance of D4Z4 contraction on chromosome 4 was established in the 1990s. The DUX4 gene was discovered in 1999, found ...
Genes on human chromosome 7, Wikipedia articles incorporating text from the United States National Library of Medicine). ... 1993). "Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site ... to human chromosome 7p11.2-p12". Genomics. 40 (1): 215-6. doi:10.1006/geno.1996.4535. PMID 9070953. Dong LQ, Du H, Porter SG, ... Kolakowski LF, Lee AV, Mandarino LJ, Fan J, Yee D, Liu F, Mandarino J (November 1997). "Cloning, chromosome localization, ...
June 2005). "Evidence for a triplex DNA conformation at the bcl-2 major breakpoint region of the t(14;18) translocation". The ... The third strand can either be from a neighboring chromosome or a triplex forming oligonucleotide (TFO). Intramolecular triplex ... and double-strand-breakpoints of certain genes. Recent work has linked the presence of non-B-DNA structures with cases of ... H-DNA forming sequences were found neighboring the P1 promoter of the c-MYC gene and are associated with the major breakpoint ...
Neuroblastoma breakpoint family, member 1, or NBPF1, is a protein that is encoded by the gene NBPF1 in humans. This protein is ... The NBPF1 protein is also found to be disrupted by a chromosomal translocation between chromosomes 1 and 17 with in some cases ... "NBPF1 neuroblastoma breakpoint family, member 1 [Homo sapiens (human)] - Gene - NCBI". ncbi.nlm.nih.gov. Retrieved 2015-02-05 ... "Neuroblastoma breakpoint family , HUGO Gene Nomenclature Committee". www.genenames.org. Archived from the original on 2013-09- ...
Marker chromosome. (Also known as an extra-structurally abnormal chromosome or supernumerary chromosome.) Chromosomes that ... clinical significance and distribution of breakpoints. Am. J. Hum. Genet. 49, 995-1013 (1991). A comprehensive survey that ... Acrocentric chromosome. A chromosome that has a centromere at or close to one end. Human acrocentric chromosomes are 13, 14, 15 ... Derivative chromosome. An abnormal chromosome consisting of segments of two or more chromosomes joined together as a result of ...
Chromosome 18 spans about 78 million DNA building blocks (base pairs) and represents approximately 2.5 percent of the total DNA ... Molecular characterization of 18p deletions: evidence for a breakpoint cluster. Genet Med. 2002 Jan-Feb;4(1):15-9. doi: 10.1097 ... Some people have a chromosome 18 with a circular structure, which is called a ring chromosome 18. This type of chromosome is ... Partial monosomy of chromosome 18p (18p-) occurs when a piece of the p arm of this chromosome is deleted. Individuals with this ...
Chromosome From. Breakpoint From (GRCh38). Strand. Chromosome To. Breakpoint To (GRCh38). Strand. Non Templated Inserted Seq. ... Chromosome. Genome start. Genome stop. Genome version. Strand. WT seq. Mut seq. FATHMM-MKL. ... This tab displays a Circos diagram, a circular plot showing each chromosome of the genome as a segment, with each datatype ...
Cloning of the chromosome breakpoint of neoplastic B cells with the t(14;18) chromosome translocation. Science.. 226, 1097-1099 ... The Mecp2 gene on the X chromosome and all males actively express one X chromosome. Hence, aberrant methylation patterns of ... Exposure to BDE-47 is known to negatively impact Mecp-2. Mecp2 has been discussed previously in terms of the X chromosome- ... The expression of imprinted genes, which are mostly found in clusters on chromosomes 6, 7, 11, 14 and 15, is controlled by a ...
Genes Chromosomes Cancer. Year:. 2008. Journal volume:. 47. Journal issue:. 12. Pages contribution:. 1086-97. Language:. eng. ... Multiple recurrent chromosomal breakpoints in mantle cell lymphoma revealed by a combination of molecular cytogenetic ... Besides 11 and 14, the most commonly rearranged chromosomes were 1, 8, and 10 in the tumors and 1, 8, and 9 in the cell lines. ... However, we identified 17 recurrent breakpoints, the most frequent being 1p22 and 8p11, each observed in four cases and two ...
Shown is the result of the reciprocal translocation of 22q to the lower arm of 9 and 9q (c-abl to a specific breakpoint cluster ... The Philadelphia chromosome, which is a diagnostic karyotypic abnormality for chronic myelogenous leukemia, is shown in this ... A phase 2 trial of ponatinib in Philadelphia chromosome-positive leukemias. N Engl J Med. 2013 Nov 7. 369 (19):1783-96. [QxMD ... Ponatinib in refractory Philadelphia chromosome-positive leukemias. N Engl J Med. 2012 Nov 29. 367(22):2075-88. [QxMD MEDLINE ...
Breakpoint_Tables.pdf. *. Lartigue MF, Poirel L, Fortineau N, Nordmann P. Chromosome-borne class A BOR-1 beta-Lactamase of ... breakpoints (12). B. hinzii CHAR-1 showed resistance to amoxicillin, cefotaxime, aminoglycosides, and ciprofloxacin; ... PK-PD (non-species related) breakpoint [cited 2022 Jan 31]. https://www.eucast.org/fileadmin/src/media/PDFs/EUCAST_files/ ...
Using our approach, we accurately mapped >400 breakpoints on chromosome 22 and a region of chromosome 11, refining the ... X-chromosome inactivation (XCI) silences transcription from one X chromosome in female mammals, on which most genes are ... The intrachromosomal contact map of the X chromosome in TS exhibits the structure of an active X chromosome. The discovery of ... Here we report on the epigenomic effects of the prominent large deletion CNVs on chromosome 22q11.2 and on chromosome 1q21.1. ...
A breakpoint map of recurrent chromosomal rearrangements in human neoplasia.. Nature Genet. 1997; 15: 417-474. View in Article ... The Chromosomes in Human Cancer and Leukemia. ed 2. Elsevier Science, New York1990. View in Article *Google Scholar ... In general, more than 85% of patients diagnosed as having CML are found to have the Ph chromosome [ 3. *Sandberg A.A. ... Instability of the Ph Chromosome in Chronic Myelocytic Leukemia. A Case Report*. Zhong Chen. Zhong Chen ...
As each rearrangement breakpoint is generated on one parental chromosome, the newly formed cis contacts at the rearrangement ... Chromosome 9 has the lowest percentage of agreement of 96.1%.) There is no long-range switching error in any chromosome in ... Haplotype-resolved structure of derivative chromosomes and aneuploid karyotypes. A. Walking the translocated X chromosome in ... Adey, A., Patwardhan, R. P., Qiu, R., Kitzman, J. O., Burton, J. N., and Shendure, J. (2013b). Chromosome-scale scaffolding of ...
Chromosome Breakage G5.355.180.210.170 G5.200.210.170 Chromosome Breakpoints G5.355.180.210.170.500 G5.200.210.170.500 ... Chromosome Deletion G5.355.600.800.180 G5.558.800.180 Chromosome Duplication G5.355.600.164 G5.558.164 Chromosome Inversion ... Chromosome Positioning G4.299.125.180 G4.128.180 Chromosome Segregation G4.299.134.220.220.625 G4.144.220.220.625 G5.355. ... X Chromosome Inactivation G5.355.315.203.249.970 G5.308.203.249.970 X-Ray Diffraction G1.595.861.950 G1.867.950 G2.149.767.915 ...
Breakpoint, Chromosome. Breakpoints, Chromosome. Chromosome Breakpoint. Chromosome Breakpoint Sequence. Chromosome Breakpoint ... Breakpoint, Chromosome Breakpoints, Chromosome Chromosome Breakpoint Chromosome Breakpoint Sequence - Related but not broader ... Chromosome Breakpoint Sequence Entry term(s). Breakpoint Sequence, Chromosome Breakpoint Sequences, Chromosome Chromosome ... Points de cassure de chromosome Entry term(s):. Breakpoint Sequence, Chromosome. Breakpoint Sequences, Chromosome. ...
Break points/Insertion Site. 84C4; 84E11. Received Date. 07Nov2007. Original Number. 5221. Chromosome. 3. ...
The human active breakpoint cluster region-related gene encodes a brain protein with homology to guanine nucleotide exchange ... gene sequence on human chromosome 17. The brain cDNA encoded a 98-kDa protein (ABR) resembling BCR (68% identity), containing ... A region in the amino-terminal end of Ras-GRF is similar to both the human breakpoint cluster protein, Bcr, and the dbl ... chain reaction strategy exploiting conserved residues in the GAP domains of n-chimaerin and the product of the breakpoint ...
... relapsed/refractory Philadelphia-chromosome positive (Ph+) ALL, and Philadelphia-chromosome-like signature (Ph-Like) ALL with ... 65 years of age with newly diagnosed Philadelphia-chromosome positive (Ph+) ALL, ... breakpoint cluster region- abelson murine leukemia viral oncogene homolog 1 (BCR-ABL) status (p190 or p210) must be evaluated ... Patients must have a diagnosis of Philadelphia chromosome negative ALL or Ph chromosome positive ALL by cytogenetics, ...
... including 440 chromosome rearrangement breakpoints associated with disease. This approach enabled the discovery of candidate ... title = "Human chromosome 7: DNA sequence and biology",. abstract = "DNA sequence and annotation of the entire human chromosome ... including 440 chromosome rearrangement breakpoints associated with disease. This approach enabled the discovery of candidate ... including 440 chromosome rearrangement breakpoints associated with disease. This approach enabled the discovery of candidate ...
Chromosomal translocations between the long arm of chromosome 1 and the acrocentric chromosome 15 are mostly secondary events ... In the group of patients with 1q21-25 breakpoints, it was a sole anomaly in 1 ALL (Strefford et al., 2007) and 1 MM (Nakano et ... chromosome (A). Hybridization with LSI PML/RARA probe revealing the red signal for PML located on der(15) chromosome (B). ... Chromosome abnormalities in adult T-cell leukemia/lymphoma: a karyotype review committee report.. Kamada N et al. ...
A DMD case caused by X chromosome rearrangement. Hu, Hao; Yang, Xiao-Wen; Cheng, De-Hua; Li, Xiu-Rong; He, Wen-Bin; Hu, Xiao; ... Long-read sequencing followed by Sanger sequencing could be useful to locate the precise breakpoints. The genetic diagnosis of ... Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease. ... We then use the karyotyping, FISH, long-read sequencing and Sanger sequencing technologies to characterize the chromosome ...
Chromosome Breakage. *Chromosome Breakpoints. *Chromosome Deletion. *Chromosome Disorders. *Chromosomes, Artificial, Bacterial ...
... PubMed, SCI, Scopus, ... Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families. Am J Hum Genet 65 ... Table 1: The patient has a 17.6-Mb duplication on chromosome 11q23.3-q25 and a 1.8-Mb duplication on chromosome 22q11.21. It is ... a 17.6-Mb duplication on chromosome chr11q23.3-q25 and a 1.8-MB duplication on chromosome 22q11.21. The genomic position of the ...
Both translocations implicated the TCR alpha/delta locus and a common breakpoint region on chromosome Xq28. A previously ... is consistently associated with chromosome rearrangements characterized by the juxtaposition of the TCRA locus on chromosome ... Genes Chromosomes Cancer. 2016; 55(1):82-94 [PubMed] Related Publications T-cell prolymphocytic leukemia (T-PLL) is a rare post ... Genes Chromosomes Cancer. 2001; 31(3):248-54 [PubMed] Related Publications T-cell prolymphocytic leukemia (T-PLL) is a rare ...
Unit data showed that the new removed chromosome are paternal in most cases: (80%) , (83.3%) , (ninety.2%) . ... New breakpoints start from p13 to p15. ...
The chromosomes involved most frequently in both tumors were numbers 1, 12, and 18. Breakpoints in 11q and 16q were also seen ... With G-banding alone, a total of 11 breakpoints were recognized. After FISH, the position of seven required revision, and 21 ... Combined data on the chromosome 1 translocations in both tumors suggested that rearrangements were more complicated than ... loci showing allelic imbalance generally had an odd number of copies of the chromosome region in which they were known to be ...
Association study of the commonly recognized breakpoints in chromosome 15q11-q13 in Japanese autistic patients. Psychiatric ... Application analysis of noninvasive prenatal testing for fetal chromosome copy number variations in Chinese laboratories]. ...
The breakpoints of 160,000 SVs were mapped to base pair resolution, allowing us to infer that insertion of retrotransposons ... Chromosome Breakpoints ... The breakpoints of 160,000 SVs were mapped to base pair ...
Loss of chromosomal material on chromosome 13 at cytoband 13q14 is the most frequent genetic abnormality in CLL, but the ... uniform in length and extend from breakpoints close to the miR15a/miR16 cluster to a newly identified telomeric breakpoint ... We analyzed 171 CLL cases for loss of heterozygosity and subchromosomal copy loss on chromosome 13 in DNA from fluorescence- ...
Chromosome Architecture 18th International Colloquim of Animal Cytogenetics and Gene Mapping 2008 ... Since the breakpoints occur in the repetitive DNA blocks, the chromosome rearrangements would have low effects on the ... However B chromosomes of red fox appeared to have different DNA methylation pattern. One of B chromosomes of red fox was weakly ... B chromosomes are additional, chromosomes to the standard complement that occur in natural populations of many different ...
Chromosome Breakpoints, Cytogenetics and Cell Genetics, 13:256, 1974.. Hensley, M., Charen, J. and Schragie, J.: Effect of ...
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 18. (medlineplus.gov)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 11. (nih.gov)
  • The parent carries a chromosomal rearrangement between chromosomes 11 and 22 called a balanced translocation. (nih.gov)
  • Multiple recurrent chromosomal breakpoints in mantle cell lymphoma revealed by a combination of molecular cytogenetic techniques. (tum.de)
  • 14), but shows recurrent chromosomal breakpoints. (tum.de)
  • My current research roles are 1) the analysis and interpretation of sequences of breakpoints of chromosomal abnormalities in Leukaemia. (ncl.ac.uk)
  • Translocations can also be classified as intra-chromosomal translocations (ITXs) and inter-chromosomal translocations (CTXs), based on whether the chromosome of the source locus is the same as that of the target locus [ 2 ]. (biomedcentral.com)
  • Chromosomal translocations between the long arm of chromosome 1 and the acrocentric chromosome 15 are mostly secondary events representing clonal evolution. (atlasgeneticsoncology.org)
  • Emanuel syndrome (ES) is a chromosomal disorder caused by the presence of a supernumerary derivative chromosome (der[22]) that contains genetic material from chromosomes 11 and 22 [1]. (fortunepublish.com)
  • 11. Translocation t(9;9)(p13;q34) in Philadelphia-negative chronic myeloid leukemia with breakpoint cluster region rearrangement. (nih.gov)
  • 13. Distribution of breakpoint within the breakpoint cluster region (bcr) in chronic myelogenous leukemia with a complex Philadelphia chromosome translocation. (nih.gov)
  • 17. Philadelphia chromosome positive precursor B-cell acute lymphoblastic leukemia with a translocation t(2;14)(p13;q32). (nih.gov)
  • Individuals with Emanuel syndrome inherit an unbalanced translocation between chromosomes 11 and 22 in the form of a der(22) chromosome. (nih.gov)
  • A translocation involving chromosome 11 can cause a type of cancerous tumor known as Ewing sarcoma. (nih.gov)
  • The Philadelphia (Ph) chromosome, a shortened version of chromosome 22, results from a reciprocal translocation between chromosomes 9q34 and 22q11 [ 1,2,3 ]. (karger.com)
  • Among 25 dysmorphic and mentally retarded subjects carrying apparently balanced de novo translocations, four had deletions at translocation breakpoints and two had deletions elsewhere in the genome. (bmj.com)
  • Intrachromosomal rearrangement of chromosome 3q27: an under recognized mechanism of BCL6 translocation in B-cell non-Hodgkin lymphoma. (atlasgeneticsoncology.org)
  • Balanced translocation resulting in fusion of the Abelson gene ( ABL 1 ) from chromosome 9q34 with the breakpoint cluster region ( BCR ) gene on chromosome 22q11.2 is the pathognomonic molecular driver of CML. (scientificarchives.com)
  • 1. Philadelphia chromosome without breakpoint cluster region rearrangement in a case of Lennert's lymphoma of suppressor phenotype. (nih.gov)
  • 5. Occurrence of high-grade T-cell lymphoma in a patient with Philadelphia chromosome-negative chronic myelogenous leukemia with breakpoint cluster region rearrangement: case report and review of the literature. (nih.gov)
  • 12. Philadelphia-positive acute leukemia: lineage promiscuity and inconsistently rearranged breakpoint cluster region. (nih.gov)
  • 1. Analysis of a breakpoint cluster region associated with intrachromal amplification of chrmosome 21 in paediatric-pre-B cell leukaemia. (ncl.ac.uk)
  • Pot2 is expressed only in mated cells, where it accumulates in developing macronuclei around the time of two chromosome processing events: internal eliminated sequence (IES) excision and chromosome breakage. (nih.gov)
  • The specific sequence of DNA where CHROMOSOME BREAKS have occurred. (nih.gov)
  • DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. (elsevierpure.com)
  • To generate a higher order description, additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease. (elsevierpure.com)
  • Non Templated Sequence (if any) which is inserted at the breakpoint. (nih.gov)
  • 8. Rearrangement of the bcr gene in Philadelphia chromosome-negative chronic myeloid leukemia. (nih.gov)
  • For most genes on this chromosome, both copies of the gene are active (expressed) in cells. (nih.gov)
  • This gene encodes a protein that binds the cancer-testis antigen Synovial Sarcoma X breakpoint 2 protein. (antikoerper-online.de)
  • A pseudogene of this gene is found on chromosome 3. (antikoerper-online.de)
  • The results indicated functional evidence for a novel tumor suppressor locus within the 3p14-p12 interval known to contain the most common fragile site of the human genome (FRA3B), the FHIT gene, and the breakpoint region associated with the familial form of RCC. (nih.gov)
  • The FHIT gene, FRA3B, and the familial RCC breakpoint region were excluded from the NRC-1 critical region. (nih.gov)
  • The main consequence of these rearrangements is genomic imbalance resulting from the presence of an extra copy of the long arm of chromosome 1, leading to overexpression of several genes, likely implicated in neoplastic processes by a gene dosage effect. (atlasgeneticsoncology.org)
  • The data accumulated in this field were obtained by different authors under different experimental conditions which does not give a complete insight about the nature of radiation-induced inherited mutations at different genome levels (chromosome, gene, DNA). (scientificarchives.com)
  • 14. [Philadelphia chromosome positive acute mixed lineage leukemia with bcr (M-BCR-1) rearrangement]. (nih.gov)
  • 3. Simultaneous demonstration of the Philadelphia chromosome in T, B, and myeloid cells. (nih.gov)
  • 4. A variant Philadelphia chromosome (Ph1) positive chronic myelocytic leukemia. (nih.gov)
  • 9. [The cellular and molecular-biological studies on Philadelphia chromosome-positive acute lymphocytic leukemia]. (nih.gov)
  • 15. Philadelphia-chromosome-positive T-lymphoblastic leukemia: acute leukemia or chronic myelogenous leukemia blastic crisis. (nih.gov)
  • 19. Heterogeneity of genomic fusion of BCR and ABL in Philadelphia chromosome-positive acute lymphoblastic leukemia. (nih.gov)
  • Activity of a specific inhibitor of the BCR-ABL tyrosine kinase in the blast crisis of chronic myeloid leukemia and acute lymphoblastic leukemia with the Philadelphia chromosome. (medscape.com)
  • Imatinib mesylate therapy in newly diagnosed patients with Philadelphia chromosome-positive chronic myelogenous leukemia: high incidence of early complete and major cytogenetic responses. (medscape.com)
  • the Philadelphia chromosome was discovered in the 60's lowed when assessing response to TKI therapy [9]. (who.int)
  • range 16-69) with Philadelphia chromosome (Ph+) positive in chronic phase CML with oral imatinib mesylate at daily doses of 400 mg. (curehunter.com)
  • 65 years of age with newly diagnosed Philadelphia-chromosome positive (Ph+) ALL, relapsed/refractory Philadelphia-chromosome positive (Ph+) ALL, and Philadelphia-chromosome-like signature (Ph-Like) ALL with known or presumed activating dasatinib-sensitive mutations or kinase fusions (DSMKF). (rush.edu)
  • The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred. (nih.gov)
  • The signs and symptoms of distal 18q deletion syndrome are thought to be related to the loss of multiple genes from this part of the long arm of chromosome 18. (medlineplus.gov)
  • Unbalanced 1q translocations leading to complete or partial trisomies of the long arm of chromosome 1 have been widely reported in both lymphoid and myeloid neoplasms. (atlasgeneticsoncology.org)
  • This tab displays a Circos diagram, a circular plot showing each chromosome of the genome as a segment, with each datatype shown as a separate track on the image. (sanger.ac.uk)
  • In some cases, the extra copy of chromosome 18 is present in only some of the body's cells. (medlineplus.gov)
  • People normally inherit one copy of chromosome 11 from each parent. (nih.gov)
  • Rarely, trisomy 18 is caused by an extra copy of only a piece of chromosome 18. (medlineplus.gov)
  • In addition to the usual 46 chromosomes, people with Emanuel syndrome have an extra (supernumerary) chromosome consisting of a piece of chromosome 22 attached to a piece of chromosome 11. (nih.gov)
  • Two copies of chromosome 18, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
  • In people with tetrasomy 18p, cells have the usual two copies of chromosome 18 plus an isochromosome 18p. (medlineplus.gov)
  • Trisomy 18 occurs when each cell in the body has three copies of chromosome 18 instead of the usual two copies, causing severe intellectual disability and multiple birth defects that are usually fatal by early childhood. (medlineplus.gov)
  • Affected individuals have two copies of chromosome 18, plus the extra material from chromosome 18 attached to another chromosome. (medlineplus.gov)
  • If the entire q arm is present in three copies, individuals may be as severely affected as if they had three full copies of chromosome 18. (medlineplus.gov)
  • These individuals have two normal copies of chromosome 11, two normal copies of chromosome 22, and extra genetic material from the der(22) chromosome. (nih.gov)
  • Tetrasomy 18p results from the presence of an abnormal extra chromosome, called an isochromosome 18p, in each cell. (medlineplus.gov)
  • The extra chromosome is known as a derivative 22 or der(22) chromosome. (nih.gov)
  • As a result of the extra chromosome, people with Emanuel syndrome have three copies of some genes in each cell instead of the usual two copies. (nih.gov)
  • Tetrahymena Pot2 is a developmentally regulated paralog of Pot1 that localizes to chromosome breakage sites but not to telomeres. (nih.gov)
  • Chromatin immunoprecipitation (ChIP) demonstrated Pot2 localization to regions of chromosome breakage but not to telomeres or IESs. (nih.gov)
  • Pot2 association with chromosome breakage sites (CBSs) occurs slightly before chromosome breakage. (nih.gov)
  • The short arms of the human acrocentric chromosomes 13, 14, 15, 21 and 22 (SAACs) share large homologous regions, including ribosomal DNA repeats and extended segmental duplications 1,2 . (nih.gov)
  • Unbalanced 1q translocations with an acrocentric recipient chromosome 15 result in 1q trisomy. (atlasgeneticsoncology.org)
  • 2. Acute T-lymphocytic leukemia with Ph1 and 5q-chromosome abnormalities and rearrangements of bcr and TCR-delta genes. (nih.gov)
  • Chromosome abnormalities in adult T-cell leukemia/lymphoma: a karyotype review committee report. (atlasgeneticsoncology.org)
  • Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
  • Chromosome 18 likely contains 200 to 300 genes that provide instructions for making proteins. (medlineplus.gov)
  • Researchers believe that extra copies of some genes on chromosome 18 disrupt the course of normal development, causing the characteristic features of trisomy 18 and the health problems associated with this disorder. (medlineplus.gov)
  • Chromosome 11 likely contains 1,300 to 1,400 genes that provide instructions for making proteins. (nih.gov)
  • Beckwith-Wiedemann syndrome results from the abnormal regulation of genes on part of the short (p) arm of chromosome 11. (nih.gov)
  • People with paternal UPD are also missing genes that are active only on the maternal copy of the chromosome. (nih.gov)
  • Mosaic paternal UPD leads to an imbalance in active paternal and maternal genes on chromosome 11, which causes the signs and symptoms of the disorder. (nih.gov)
  • Like the other genetic changes responsible for Beckwith-Wiedemann syndrome, these changes disrupt the normal regulation of genes in this part of chromosome 11. (nih.gov)
  • Researchers are working to determine which genes are included on the der(22) chromosome and what role these genes play in development. (nih.gov)
  • The identification of recurring translocations and unique chromosome break points in melanoma will aid in the identification of the genes that are important in the neoplastic process. (cdc.gov)
  • Emanuel syndrome is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. (nih.gov)
  • Physical and functional mapping of a tumor suppressor locus for renal cell carcinoma within chromosome 3p12. (nih.gov)
  • The results limit the region containing the tumor suppressor locus within chromosome 3p12. (nih.gov)
  • Distal 18q deletion syndrome occurs when a piece of the long (q) arm of chromosome 18 is missing. (medlineplus.gov)
  • The term "distal" means that the missing piece (deletion) occurs near one end of the chromosome arm. (medlineplus.gov)
  • The term "proximal" means that in this disorder the deletion occurs near the center of the chromosome, in an area between regions called 18q11.2 and 18q21.2. (medlineplus.gov)
  • Partial trisomy 18 occurs when part of the q arm of chromosome 18 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in embryonic development. (medlineplus.gov)
  • The chromosome where the first variant/breakpoint occurs. (nih.gov)
  • Besides 11 and 14, the most commonly rearranged chromosomes were 1, 8, and 10 in the tumors and 1, 8, and 9 in the cell lines. (tum.de)
  • Association study of the commonly recognized breakpoints in chromosome 15q11-q13 in Japanese autistic patients. (cdc.gov)
  • A small supernumerary marker chromosome occurring with low frequency and the breakpoint of a mosaic r(18) case could not be clarified. (bmj.com)
  • The affected progeny unlike their parent are genotypic ally unbalanced because they carry the der(22) as a supernumerary chromosome [3] therefore manifesting the distinctive phenotype of the disorder. (fortunepublish.com)
  • We now report the physical mapping of the NRC-1 critical region by detailed microsatellite analyses of novel microcell hybrid clones containing transferred fragments of chromosome 3p in the RCC cell background that were phenotypically suppressed or unsuppressed for tumorigenicity in vivo. (nih.gov)
  • The deletion that causes distal 18q deletion syndrome can occur anywhere between a region called 18q21 and the end of the chromosome. (medlineplus.gov)
  • People with Emanuel syndrome typically inherit the der(22) chromosome from an unaffected parent. (nih.gov)
  • Furthermore, most MCL harbor complex karyotypes with a high number of both structural and numerical alterations affecting several common breakpoints, leading to various balanced and unbalanced translocations. (tum.de)
  • Results: We detected a novel microduplication at chromosome Xq26.3 in 2 unrelated kindreds and 13 sporadic cases with infantile gigantism. (nih.gov)
  • For these experiments, a defined subchromosomal fragment of human chromosome 3p was transferred into a sporadic RCC cell line via microcell fusion, and microcell hybrid clones were tested for tumorigenicity in vivo. (nih.gov)
  • In the group of patients with 1q21-25 breakpoints, it was a sole anomaly in 1 ALL (Strefford et al. (atlasgeneticsoncology.org)
  • Cytogenetic analysis of 280 patients with multiple myeloma and related disorders: primary breakpoints and clinical correlations. (atlasgeneticsoncology.org)
  • Breakpoint junctions revealed microhomology, suggesting a replicative mechanism for their formation. (nih.gov)
  • However, we identified 17 recurrent breakpoints, the most frequent being 1p22 and 8p11, each observed in four cases and two cell lines. (tum.de)
  • Conventional chromosome study revealed a complex paracentric inversion involving 2q14.3 and 2q34, and multicolor banding refined breakpoints to 2q14 and 2q34. (bmj.com)
  • As a result, each cell has four copies of the short arm of chromosome 18. (medlineplus.gov)
  • 14), cryptic in one case and two cell lines, preferentially involving chromosome 8. (tum.de)
  • To exclude the presence of dic(1;15)(p10-11;p10-11) or dic(1;15)(q10 11;q10-11) fluorescence in situ hybridization with centromere-specific probes for both chromosomes is recommended. (atlasgeneticsoncology.org)
  • Isochromosome 18p is a version of chromosome 18 made up of two p arms. (medlineplus.gov)
  • Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. (medlineplus.gov)
  • The last position in breakpoint range. (nih.gov)
  • La recherche qualitative des transcrits de fusion a été réalisée au service de biochimie de l'Etablissement hospitalier et universitaire d'Oran, par la technique d'amplifica- tion en chaine par polymérase après rétro-transcription (RT-PCR). (who.int)

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