Chromosome aberrations. Medical search

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

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)

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

Mapping of the KARYOTYPE of a cell.

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.

An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.

Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.

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.

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

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.

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)

Induction and quantitative measurement of chromosomal damage leading to the formation of micronuclei (MICRONUCLEI, CHROMOSOME-DEFECTIVE) in cells which have been exposed to genotoxic agents or IONIZING RADIATION.

Tests of chemical substances and physical agents for mutagenic potential. They include microbial, insect, mammalian cell, and whole animal tests.

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 C CHROMOSOMES 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)

Chemical agents that increase the rate of genetic mutation by interfering with the function of nucleic acids. A clastogen is a specific mutagen that causes breaks in chromosomes.

Warfare involving the use of NUCLEAR WEAPONS.

Asymmetries in the topography and refractive index of the corneal surface that affect visual acuity.

Actual loss of portion of a chromosome.

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.

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

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.

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).

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

Americium. A completely man-made radioactive actinide with atomic symbol Am, atomic number 95, and atomic weight 243. Its valence can range from +3 to +6. Because of its nonmagnetic ground state, it is an excellent superconductor. It is also used in bone mineral analysis and as a radiation source for radiotherapy.

White blood cells formed in the body's lymphoid tissue. The nucleus is round or ovoid with coarse, irregularly clumped chromatin while the cytoplasm is typically pale blue with azurophilic (if any) granules. Most lymphocytes can be classified as either T or B (with subpopulations of each), or NATURAL KILLER CELLS.

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

The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.

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

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

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

A subdiscipline of genetics that studies RADIATION EFFECTS on the components and processes of biological inheritance.

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

Toxic alkylating agent used in industry; also as antineoplastic and research tool to produce chromosome aberrations and cancers.

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

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

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

Rate of energy dissipation along the path of charged particles. In radiobiology and health physics, exposure is measured in kiloelectron volts per micrometer of tissue (keV/micrometer T).

Defective nuclei produced during the TELOPHASE of MITOSIS or MEIOSIS by lagging CHROMOSOMES or chromosome fragments derived from spontaneous or experimentally induced chromosomal structural changes.

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 PLANTS.

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.

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

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

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

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

The alignment of CHROMOSOMES at homologous sequences.

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

A specific pair of GROUP F 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.

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

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

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

Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS.

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

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

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

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 relationship between the dose of administered radiation and the response of the organism or tissue to the radiation.

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

Radiation from sources other than the source of interest. It is due to cosmic rays and natural radioactivity in the environment.

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

PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.

Uncontrolled release of radioactive material from its containment. This either threatens to, or does, cause exposure to a radioactive hazard. Such an incident may occur accidentally or deliberately.

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

Derivatives and polymers of styrene. They are used in the manufacturing of synthetic rubber, plastics, and resins. Some of the polymers form the skeletal structures for ion exchange resin beads.

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.

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.

An expression of the number of mitoses found in a stated number of cells.

The use of an aberrometer to measure eye tissue imperfections or abnormalities based on the way light passes through the eye which affects the ability of the eye to focus properly.

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.

Positively charged particles composed of two protons and two NEUTRONS, i.e. equivalent to HELIUM nuclei, which are emitted during disintegration of heavy ISOTOPES. Alpha rays have very strong ionizing power, but weak penetrability.

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

A chemosterilant agent that is anticipated to be a carcinogen.

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

Penetrating, high-energy electromagnetic radiation emitted from atomic nuclei during NUCLEAR DECAY. The range of wavelengths of emitted radiation is between 0.1 - 100 pm which overlaps the shorter, more energetic hard X-RAYS wavelengths. The distinction between gamma rays and X-rays is based on their radiation source.

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.

The ratio of radiation dosages required to produce identical change based on a formula comparing other types of radiation with that of gamma or roentgen rays.

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

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.

An ancient country in western Asia, by the twentieth century divided among the former USSR, Turkey, and Iran. It was attacked at various times from before the 7th century B.C. to 69 B.C. by Assyrians, Medes, Persians, the Greeks under Alexander, and the Romans. It changed hands frequently in wars between Neo-Persian and Roman Empires from the 3d to 7th centuries and later under Arabs, Seljuks, Byzantines, and Mongols. In the 19th century Armenian nationalism arose but suffered during Russo-Turkish hostilities. It became part of the Soviet Republic in 1921, with part remaining under Turkey. (Webster's New Geographical Dictionary, 1988)

Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)

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

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.

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.

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).

A subfamily in the family MURIDAE, comprising the hamsters. Four of the more common genera are Cricetus, CRICETULUS; MESOCRICETUS; and PHODOPUS.

Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES.

The amount of radiation energy that is deposited in a unit mass of material, such as tissues of plants or animal. In RADIOTHERAPY, radiation dosage is expressed in gray units (Gy). In RADIOLOGIC HEALTH, the dosage is expressed by the product of absorbed dose (Gy) and quality factor (a function of linear energy transfer), and is called radiation dose equivalent in sievert units (Sv).

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

The measurement of curvature and shape of the anterior surface of the cornea using techniques such as keratometry, keratoscopy, photokeratoscopy, profile photography, computer-assisted image processing and videokeratography. This measurement is often applied in the fitting of contact lenses and in diagnosing corneal diseases or corneal changes including keratoconus, which occur after keratotomy and keratoplasty.

A genotoxicological technique for measuring DNA damage in an individual cell using single-cell gel electrophoresis. Cell DNA fragments assume a "comet with tail" formation on electrophoresis and are detected with an image analysis system. Alkaline assay conditions facilitate sensitive detection of single-strand damage.

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

A genus of the family Muridae consisting of eleven species. C. migratorius, the grey or Armenian hamster, and C. griseus, the Chinese hamster, are the two species used in biomedical research.

ELECTROMAGNETIC RADIATION or particle radiation (high energy ELEMENTARY PARTICLES) capable of directly or indirectly producing IONS in its passage through matter. The wavelengths of ionizing electromagnetic radiation are equal to or smaller than those of short (far) ultraviolet radiation and include gamma and X-rays.

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

Unstable isotopes of cobalt that decay or disintegrate emitting radiation. Co atoms with atomic weights of 54-64, except 59, are radioactive cobalt isotopes.

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.

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

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.

The exposure to potentially harmful chemical, physical, or biological agents that occurs as a result of one's occupation.

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.

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).

An agent thought to have disinfectant properties and used as an expectorant. (From Martindale, The Extra Pharmacopoeia, 30th ed, p747)

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

Penetrating electromagnetic radiation emitted when the inner orbital electrons of an atom are excited and release radiant energy. X-ray wavelengths range from 1 pm to 10 nm. Hard X-rays are the higher energy, shorter wavelength X-rays. Soft x-rays or Grenz rays are less energetic and longer in wavelength. The short wavelength end of the X-ray spectrum overlaps the GAMMA RAYS wavelength range. The distinction between gamma rays and X-rays is based on their radiation source.

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

The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.

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

Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus.

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.

A condition caused by a brief whole body exposure to more than one sievert dose equivalent of radiation. Acute radiation syndrome is initially characterized by ANOREXIA; NAUSEA; VOMITING; but can progress to hematological, gastrointestinal, neurological, pulmonary, and other major organ dysfunction.

Refraction of LIGHT effected by the media of the EYE.

Unstable isotopes of cesium that decay or disintegrate emitting radiation. Cs atoms with atomic weights of 123, 125-132, and 134-145 are radioactive cesium isotopes.

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

The ability of some cells or tissues to survive lethal doses of IONIZING RADIATION. Tolerance depends on the species, cell type, and physical and chemical variables, including RADIATION-PROTECTIVE AGENTS and RADIATION-SENSITIZING AGENTS.

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.

Toxic, volatile, flammable liquid hydrocarbon byproduct of coal distillation. It is used as an industrial solvent in paints, varnishes, lacquer thinners, gasoline, etc. Benzene causes central nervous system damage acutely and bone marrow damage chronically and is carcinogenic. It was formerly used as parasiticide.

An alkaloid isolated from Colchicum autumnale L. and used as an antineoplastic.

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.

Agents that reduce the frequency or rate of spontaneous or induced mutations independently of the mechanism involved.

Chemicals especially for use on instruments to destroy pathogenic organisms. (Boucher, Clinical Dental Terminology, 4th ed)

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

Uranium. A radioactive element of the actinide series of metals. It has an atomic symbol U, atomic number 92, and atomic weight 238.03. U-235 is used as the fissionable fuel in nuclear weapons and as fuel in nuclear power reactors.

Structures within the CELL NUCLEUS of insect cells containing DNA.

The process by which a DNA molecule is duplicated.

Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.

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.

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.

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 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.

An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.

DNA present in neoplastic tissue.

Structures which are contained in or part of CHROMOSOMES.

An antineoplastic antibiotic produced by Streptomyces caespitosus. It is one of the bi- or tri-functional ALKYLATING AGENTS causing cross-linking of DNA and inhibition of DNA synthesis.

Mature male germ cells derived from SPERMATIDS. As spermatids move toward the lumen of the SEMINIFEROUS TUBULES, they undergo extensive structural changes including the loss of cytoplasm, condensation of CHROMATIN into the SPERM HEAD, formation of the ACROSOME cap, the SPERM MIDPIECE and the SPERM TAIL that provides motility.

The measurement of radiation by photography, as in x-ray film and film badge, by Geiger-Mueller tube, and by SCINTILLATION COUNTING.

Established cell cultures that have the potential to propagate indefinitely.

The complex series of phenomena, occurring between the end of one CELL DIVISION and the end of the next, by which cellular material is duplicated and then divided between two daughter cells. The cell cycle includes INTERPHASE, which includes G0 PHASE; G1 PHASE; S PHASE; and G2 PHASE, and CELL DIVISION PHASE.

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

Chemicals that kill or inhibit the growth of fungi in agricultural applications, on wood, plastics, or other materials, in swimming pools, etc.

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

The reciprocal exchange of segments at corresponding positions along pairs of homologous CHROMOSOMES by symmetrical breakage and crosswise rejoining forming cross-over sites (HOLLIDAY JUNCTIONS) that are resolved during CHROMOSOME SEGREGATION. Crossing-over typically occurs during MEIOSIS but it may also occur in the absence of meiosis, for example, with bacterial chromosomes, organelle chromosomes, or somatic cell nuclear chromosomes.

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.

The soft tissue filling the cavities of bones. Bone marrow exists in two types, yellow and red. Yellow marrow is found in the large cavities of large bones and consists mostly of fat cells and a few primitive blood cells. Red marrow is a hematopoietic tissue and is the site of production of erythrocytes and granular leukocytes. Bone marrow is made up of a framework of connective tissue containing branching fibers with the frame being filled with marrow cells.

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

The 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.

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.

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

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 span of viability of a cell characterized by the capacity to perform certain functions such as metabolism, growth, reproduction, some form of responsiveness, and adaptability.

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

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

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.

The dioptric adjustment of the EYE (to attain maximal sharpness of retinal imagery for an object of regard) referring to the ability, to the mechanism, or to the process. Ocular accommodation is the effecting of refractive changes by changes in the shape of the CRYSTALLINE LENS. Loosely, it refers to ocular adjustments for VISION, OCULAR at various distances. (Cline et al., Dictionary of Visual Science, 4th ed)

The exposure to potentially harmful chemical, physical, or biological agents in the environment or to environmental factors that may include ionizing radiation, pathogenic organisms, or toxic chemicals.

Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed)

Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.

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.

Cell changes manifested by escape from control mechanisms, increased growth potential, alterations in the cell surface, karyotypic abnormalities, morphological and biochemical deviations from the norm, and other attributes conferring the ability to invade, metastasize, and kill.

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

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)

Chemicals used to destroy pests of any sort. The concept includes fungicides (FUNGICIDES, INDUSTRIAL); INSECTICIDES; RODENTICIDES; etc.

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.

An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).

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

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

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.

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

The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.

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

Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference.

Elements of limited time intervals, contributing to particular results or situations.

The entity of a developing mammal (MAMMALS), generally from the cleavage of a ZYGOTE to the end of embryonic differentiation of basic structures. For the human embryo, this represents the first two months of intrauterine development preceding the stages of the FETUS.

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.

The aperture in the iris through which light passes.

New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.

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

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.

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.

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.

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.

An assisted fertilization technique consisting of the microinjection of a single viable sperm into an extracted ovum. It is used principally to overcome low sperm count, low sperm motility, inability of sperm to penetrate the egg, or other conditions related to male infertility (INFERTILITY, MALE).

An assisted reproductive technique that includes the direct handling and manipulation of oocytes and sperm to achieve fertilization in vitro.

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.

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.

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.

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.

Female germ cells derived from OOGONIA and termed OOCYTES when they enter MEIOSIS. The primary oocytes begin meiosis but are arrested at the diplotene state until OVULATION at PUBERTY to give rise to haploid secondary oocytes or ova (OVUM).

The fission of a CELL. It includes CYTOKINESIS, when the CYTOPLASM of a cell is divided, and CELL NUCLEUS DIVISION.

A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness.

The injection of very small amounts of fluid, often with the aid of a microscope and microsyringes.

Classification of human colorectal adenocarcinoma cell lines. (1/6775)

Eleven human colorectal adenocarcinoma cell lines established in this laboratory were classified into three groups based on morphological features (light and electron microscopy), modal chromosome number, and ability to synthesize carcinoembryonic antigen (CEA). Group 1 cell lines contained both dedifferentiated and differentiating cells growing in tight clusters or islands of epithelium-like cells; their modal chromosome number was about 47, and they synthesized small to moderate amounts of CEA. Group 2 cell lines were more dedifferentiated, were hyperdiploid, and synthesized small amounts of CEA. Group 3 cell lines were morphologically similar to those of Group 1 by light microscopy. They differed ultrastructurally by containing microvesicular bodies; the modal chromosome number varied from hyperdiploid to hypertriploid or they had bimodal populations of hypodiploid and hypertriploid cells, and they synthesized relatively large amounts of CEA. No correlation could be found between Broder's grade or Duke's classification of the original tumor and modal chromosome number or ability to synthesize CEA. These findings support Nowell's hypothesis that the stem line is different for each solid tumor, which makes it difficult to relate chromosomal changes to the initiation of the neoplastic state. (+info)

Assaying potential carcinogens with Drosophila. (2/6775)

Drosophila offers many advantages for the detection of mutagenic activity of carcinogenic agents. It provides the quickest assay system for detecting mutations in animals today. Its generation time is short, and Drosophila is cheap and easy to breed in large numbers. The simple genetic testing methods give unequivocal answers about the whole spectrum of relevant genetic damage. A comparison of the detection capacity of assays sampling different kinds of genetic damage revealed that various substances are highly effective in inducing mutations but do not produce chromosome breakage effects at all, or only at much higher concentrations than those required for mutation induction. Of the different assay systems available, the classical sex-linked recessive lethal test deserves priority, in view of its superior capacity to detect mutagens. Of practical importance is also its high sensitivity, because a large number of loci in one fifth of the genome is tested for newly induced forward mutations, including small deletions. The recent findings that Drosophila is capable of carrying out the same metabolic activation reactions as the mammalian liver makes the organism eminently suitable for verifying results obtained in prescreening with fast microbial assay systems. An additional advantage in this respect is the capacity of Drosophila for detecting short-lived activation products, because intracellular metabolic activation appears to occur within the spermatids and spermatocytes. (+info)

Superimposed histologic and genetic mapping of chromosome 9 in progression of human urinary bladder neoplasia: implications for a genetic model of multistep urothelial carcinogenesis and early detection of urinary bladder cancer. (3/6775)

The evolution of alterations on chromosome 9, including the putative tumor suppressor genes mapped to the 9p21-22 region (the MTS genes), was studied in relation to the progression of human urinary bladder neoplasia by using whole organ superimposed histologic and genetic mapping in cystectomy specimens and was verified in urinary bladder tumors of various pathogenetic subsets with longterm follow-up. The applicability of chromosome 9 allelic losses as non-invasive markers of urothelial neoplasia was tested on voided urine and/or bladder washings of patients with urinary bladder cancer. Although sequential multiple hits in the MTS locus were documented in the development of intraurothelial precursor lesions, the MTS genes do not seem to represent a major target for p21-23 deletions in bladder cancer. Two additional tumor suppressor genes involved in bladder neoplasia located distally and proximally to the MTS locus within p22-23 and p11-13 regions respectively were identified. Several distinct putative tumor suppressor gene loci within the q12-13, q21-22, and q34 regions were identified on the q arm. In particular, the pericentromeric q12-13 area may contain the critical tumor suppressor gene or genes for the development of early urothelial neoplasia. Allelic losses of chromosome 9 were associated with expansion of the abnormal urothelial clone which frequently involved large areas of urinary bladder mucosa. These losses could be found in a high proportion of urothelial tumors and in voided urine or bladder washing samples of nearly all patients with urinary bladder carcinoma. (+info)

Comparative molecular genetic profiles of anaplastic astrocytomas/glioblastomas multiforme and their subsequent recurrences. (4/6775)

Malignant glial tumors (anaplastic astrocytomas and glioblastomas multiforme) arise mostly either from the progression of low grade precursor lesions or rapidly in a de novo fashion and contain distinct genetic alterations. There is, however, a third subset of malignant gliomas in which genetic lesions remain to be identified. Following surgical resection, all gliomas appear to have an inherent tendency to recur. Comparative molecular analysis of ten primary malignant gliomas (three anaplastic astrocytomas and seven glioblastomas multiforme) with their recurrences identified two distinct subgroups of recurrent tumors. In one group, primary tumors harbored genetic aberrations frequently associated with linear progression or de novo formation pathways of glial tumorigenesis and maintained their genetic profiles upon recurrence. In the other subset with no detectable known genetic mutations at first presentation, the recurrent tumors sustained specific abnormalities associated with pathways of linear progression or de novo formation. These included loss of genes on chromosomes 17 and 10, mutations in the p53 gene, homozygous deletion of the DMBTA1 and p16 and/ or p15 genes and amplification and/or overexpression of CDK4 and alpha form of the PDGF receptor. Recurrent tumors from both groups also displayed an abnormal expression profile of the metalloproteinase, gel A, and its inhibitor, TIMP-2, consistent with their highly invasive behavior. Delineation of the molecular differences between malignant glioblastomas and their subsequent recurrences may have important implications for the development of rational clinical approaches for this neoplasm that remains refractory to existing therapeutic modalities. (+info)

Specific chromosomal aberrations and amplification of the AIB1 nuclear receptor coactivator gene in pancreatic carcinomas. (5/6775)

To screen pancreatic carcinomas for chromosomal aberrations we have applied molecular cytogenetic techniques, including fluorescent in situ hybridization, comparative genomic hybridization, and spectral karyotyping to a series of nine established cell lines. Comparative genomic hybridization revealed recurring chromosomal gains on chromosome arms 3q, 5p, 7p, 8q, 12p, and 20q. Chromosome losses were mapped to chromosome arms 8p, 9p, 17p, 18q, 19p, and chromosome 21. The comparison with comparative genomic hybridization data from primary pancreatic tumors indicates that a specific pattern of chromosomal copy number changes is maintained in cell culture. Metaphase chromosomes from six cell lines were analyzed by spectral karyotyping, a technique that allows one to visualize all chromosomes simultaneously in different colors. Spectral karyotyping identified multiple chromosomal rearrangements, the majority of which were unbalanced. No recurring reciprocal translocation was detected. Cytogenetic aberrations were confirmed using fluorescent in situ hybridization with probes for the MDR gene and the tumor suppressor genes p16 and DCC. Copy number increases on chromosome 20q were validated with a probe specific for the nuclear receptor coactivator AIB1 that maps to chromosome 20q12. Amplification of this gene was identified in six of nine pancreatic cancer cell lines and correlated with increased expression. (+info)

Conserved mechanism of PLAG1 activation in salivary gland tumors with and without chromosome 8q12 abnormalities: identification of SII as a new fusion partner gene. (6/6775)

We have previously shown (K. Kas et al, Nat. Genet., 15: 170-174, 1997) that the developmentally regulated zinc finger gene pleomorphic adenoma gene 1 (PLAG1) is the target gene in 8q12 in pleomorphic adenomas of the salivary glands with t(3;8)(p21;q12) translocations. The t(3;8) results in promoter swapping between PLAG1 and the constitutively expressed gene for beta-catenin (CTNNB1), leading to activation of PLAG1 expression and reduced expression of CTNNB1. Here we have studied the expression of PLAG1 by Northern blot analysis in 47 primary benign and malignant human tumors with or without cytogenetic abnormalities of 8q12. Overexpression of PLAG1 was found in 23 tumors (49%). Thirteen of 17 pleomorphic adenomas with a normal karyotype and 5 of 10 with 12q13-15 abnormalities overexpressed PLAG1, which demonstrates that PLAG1 activation is a frequent event in adenomas irrespective of karyotype. In contrast, PLAG1 was overexpressed in only 2 of 11 malignant salivary gland tumors analyzed, which suggests that, at least in salivary gland tumors, PLAG1 activation preferentially occurs in benign tumors. PLAG1 over-expression was also found in three of nine mesenchymal tumors, i.e., in two uterine leiomyomas and one leiomyosarcoma. RNase protection, rapid amplification of 5'-cDNA ends (5'-RACE), and reverse transcription-PCR analyses of five adenomas with a normal karyotype revealed fusion transcripts in three tumors. Nucleotide sequence analysis of these showed that they contained fusions between PLAG1 and CTNNB1 (one case) or PLAG1 and a novel fusion partner gene, i.e., the gene encoding the transcription elongation factor SII (two cases). The fusions occurred in the 5' noncoding region of PLAG1, leading to exchange of regulatory control elements and, as a consequence, activation of PLAG1 gene expression. Because all of the cases had grossly normal karyotypes, the rearrangements must result from cryptic rearrangements. The results suggest that in addition to chromosomal translocations and cryptic rearrangements, PLAG1 may also be activated by mutations or indirect mechanisms. Our findings establish a conserved mechanism of PLAG1 activation in salivary gland tumors with and without 8q12 aberrations, which indicates that such activation is a frequent event in these tumors. (+info)

Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18. (7/6775)

A pericentric inversion of chromosome 18 is described in the mother of a patient with clinical diagnosis of 18q--syndrome. The propositus' chromosome complement includes the recombinant 18 with deficiency of the distal one-third of the long arm and duplication of the terminal segment of the short arm. The propositus' sister carrier the recombinant 18 with a duplication of the distal one-third of the long arm and a deficiency of the terminal segment of the short arm. The relative length of the inverted segment represents about 60% of the total chromosome 18 length. The probability of recombinant formation following the occurrence of a chiasma within the inverted segment is predicted to be high. (+info)

Structure and inheritance of some heterozygous Robertsonian translocation in man. (8/6775)

Banding studies in 25 Robertsonian translocations showed that all could be interpreted as stable dicentrics. The mechanism for their stability is likely to be the proximity of their centromeres but centromeric suppression could also have a role. In many of these dicentric translocations, discontinuous centromeric suppression, as indicated by chromatid separation at one of the centromeric regions, was observed in C-banded preparations. A further observation of undefined relation to the first was that the ratio of the two constitutive centromeric heterochromatin (CCH) regions from the component chromosomes of the translocations was variable in the same translocation type, e.g. t(13;14). It is proposed that this ratio may influence the segregation ratio. Abnormal spermatogenesis is suggested as the likely mechanism for the difference in the proportion of aneuploid offspring in the progeny of maternal and paternal heterozygotes. Neither of the t dic(21;21)s could be interpreted as isochromosomes. It is proposed that Robertsonian fusion translocations be defined as stable, dicentric, whole-arm translocations, with both centromeres in a median position and resulting in the loss of a small acentric fragment during this formation. It is suggested that they occur at high frequency between telocentric or, as in man, certain acrocentric chromosomes because of some intrinsic property of those chromosomes not possessed by metacentric chromosomes and mediated by interphase association of centromeres. (+info)

DNA and chromosome aberrations; structural biology and molecular applications; tumor biology and microenvironment; and tumor ...

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

Douglas RN, Birchler JA (2017). "B Chromosomes". In Bhat T, Wani A (eds.). Chromosome Structure and Aberrations. New Delhi: ... Discussing B chromosomes in plants he wrote: In many cases these chromosomes have no useful function at all to the species ... B chromosomes refer to chromosomes that are not required for the viability or fertility of the organism, but exist in addition ... B chromosomes were first detected over a century ago.[when?] Though typically smaller than normal chromosomes, their gene poor ...

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

Mertens, F.; Wahlberg, P.; Domanski, H. A. (2009). "Clonal chromosome aberrations in a sialoblastoma". Cancer Genetics and ...

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

August 2006). "Stochastic cancer progression driven by non-clonal chromosome aberrations". Journal of Cellular Physiology. 208 ... "Cancer progression by non-clonal chromosome aberrations". Journal of Cellular Biochemistry. 98 (6): 1424-1435. doi:10.1002/jcb. ... and karyotypic variations including chromosome structural aberrations and aneuploidy. Studies of this issue have focused mainly ... Advances in cytogenetics facilitated discovery of chromosome abnormalities in neoplasms, including the Philadelphia chromosome ...

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

"Mitelman Database of Chromosome Aberrations in Cancer". Cancer Genome Anatomy Project. Retrieved 2008-03-01. v t e (Articles ... See below.) Mitelman F: Catalog of Chromosome Aberrations in Cancer, Karger, Basel 1983, ISBN 3-8055-3813-8; 2nd Ed. Alan R. ... Mitelman, F; Johansson, B; Mertens, F (2004). "Fusion genes and rearranged genes as a linear function of chromosome aberrations ... Together with Fredrik Mertens and Bertil Johansson he maintains a database of all published chromosome aberrations in ...

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

... in humans two chromosomes fused to form chromosome 2. Chromosomal aberrations are disruptions in the normal chromosomal content ... Chromosomes can also be fused artificially. For example, the 16 chromosomes of yeast have been fused into one giant chromosome ... Chromosomes in humans can be divided into two types: autosomes (body chromosome(s)) and allosome (sex chromosome(s)). Certain ... and two sex chromosomes. This gives 46 chromosomes in total. Other organisms have more than two copies of their chromosome ...

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

Henry H.Q. Heng (2006-05-10). "Stochastic cancer progression driven by non-clonal chromosome aberrations". Journal of Cellular ... "chromosome catastrophes," "structural mutations," "Frankenstein chromosomes," and more). Despite the various individual ... the idea that there is an emergent level of information from the order of genes on a chromosome, two-phased evolution, a model ... The Genome Architecture Theory focuses more on a genome or chromosome-oriented approach to biology, in contrast to the ...

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

The Cancer Chromosome Aberration Project (cCAP) is a CGAP supported initiative used for defining chromosome structure and to ... "The Cancer Chromosome Aberration Project (CCAP)". Retrieved 2014-09-05. "All About the FISH-mapped BACs". Retrieved 2014-09-07 ... with notable ones including the Cancer Chromosome Aberration Project (CCAP) and the Genetic Annotation Initiative (GAI). CGAP ... U. Brinkmann; G. Vasmatzis; B. Lee; N. Yerushalmi; M. Essand; I. Pastan (September 1998). "PAGE-1, an X chromosome-linked GAGE- ...

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

"Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer". cgap.nci.nih.gov. Retrieved 2018-11-27. Nathanson, ... Fikes, Bradley J. (9 February 2017). "Cancer genes hide outside chromosomes". sandiegouniontribune.com. Retrieved 2019-01-31. " ...

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

"Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer". Archived from the original on 2016-05-25. Retrieved ... Laâbi Y, Gras MP, Carbonnel F, Brouet JC, Berger R, Larsen CJ, Tsapis A (November 1992). "A new gene, BCM, on chromosome 16 is ... September 1999). "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q". Genomics ... Genes on human chromosome 16, Wikipedia articles incorporating text from the United States National Library of Medicine, ...

https://en.wikipedia.org/wiki/B-cell_maturation_antigen

"Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer". Archived from the original on 2016-05-29. "Atlas of ... Loss of heterozygocity on chromosome arm 3p is found in more than 80% of SCLCs, including the loss of FHIT. One hundred ...

https://en.wikipedia.org/wiki/Small-cell_carcinoma

August 2002). "Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations". Am. J. Med. Genet. ... This second gene is also located on the short arm of chromosome 12 (12p12.1).[citation needed] In terms of the mechanism of ... The gene is located on short arm of chromosome 12 (12p12). Mutations in another gene (KCNJ8) has also been associated with this ...

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

10] Chromosome connections and aberrations in the Campanula persicifolia group. Svensk Botanisk Tidskrift 58: 1-17. 1964. ... Chromosome numbers of some Arctic or boreal flowering plants. Meddelelser om Grønland 147, 6: 1-32. 1950. Contributions to the ... Keywords: algae, Greenland' Chromosome behaviour and syncyte formation in Phleum phleoides (L.) Karst. Botaniska Notiser 1950: ... Chromosome studies in the Ranunculus polyanthemus complex. Botanisk Tidsskrift 54: 160-166. 1958. & M.W. Bentzon. Density ...

https://en.wikipedia.org/wiki/Tyge_W._Böcher

Luippold HE, Gooch PC, Brewen JG (February 1978). "The production of chromosome aberrations in various mammalian cells by ... It can cause chromatid aberrations in cell models. Altretamine Wong, Jeannette R.; Morton, Lindsay M.; Tucker, Margaret A.; ...

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

Mitelman F; Johansson B; Mertens F. "Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer". Archived from the ... This database is called Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer. Presence of certain chromosomal ... part of the ABL1 gene in the breakpoint on chromosome 9 and the 5' part of a gene called BCR in the breakpoint in chromosome 22 ... later designated the Philadelphia chromosome. In 1973, Janet Rowley in Chicago showed that the Philadelphia chromosome had ...

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

... are rare aberrations of human chromosome 1. In a common situation a human cell has one pair of identical chromosomes on ... In this way the number of chromosomes will be halved in each cell, while all the parts on the chromosome (genes) remain, after ... chromosome 1. With the 1q21.1 CNVs one chromosome of the pair is not complete because a part of the sequence of the chromosome ... The result is that one chromosome is of normal length and the other one is too long or too short.[citation needed] The ...

https://en.wikipedia.org/wiki/1q21.1_copy_number_variations

"Effect of epithalon on the incidence of chromosome aberrations in senescence-accelerated mice". Bull Exp Biol Med. 133 (3): 274 ... epitalon did not appear to correct pre-existing structural aberrations of chromosomes associated with telomere degradation, but ... An in vivo study in aging mice found that epitalon treatment significantly reduced the incidence of chromosomal aberrations, ... did appear to exert a protective effect against the future development of additional chromosomal aberrations. A human ...

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

Polycentric chromosomes are produced by chromosomal aberrations such as deletion, duplication, or translocation.[citation ... In genetics, a polycentric chromosome is any chromosome featuring multiple centromeres. ... Polycentric chromosomes usually result in the death of the cell because polycentric chromosomes may fail to move to opposite ... As a result, the chromosome is fragmented, which causes the death of the cell. In some algae, such as Spirogyra, polycentric ...

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

2011). "Chromosome Segregation Errors as a cause of DNA Damage and Structural Chromosome Aberrations". Science. 333 (6051): ... Cells with defective chromosome segregation will form micronuclei which contain whole chromosomes or fragments of chromosomes. ... Chromosome segregation errors can lead to DNA damage and chromosomal aberrations such as aneuploidy which is linked to tumour ... The resulting fragmented chromosome segments can be joined together to give rise to a rearranged chromosome, which can ...

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

"Sensitive detection of chromosome copy number aberrations in prostate cancer by fluorescence in situ hybridization". The ... X chromosome reactivation (XCR) is the process by which the inactive X chromosome (the Xi) is re-activated in the cells of ... Therian female mammalian cells have two X chromosomes, while males have only one, requiring X-chromosome inactivation (XCI) for ... the paternal X chromosome is already partially silenced at the zygote stage by imprinted XCI, suggesting that sex-chromosome ...

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

Abe, Syuiti; Sasaki, Motomichi (1977). "Chromosome Aberrations and Sister Chromatid Exchanges in Chinese Hamster Cells Exposed ...

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

These DNA damages, chromosome aberrations and mutations may in turn cause more RecQ-independent aging phenotypes.[citation ... Mouse cells deficient for maturation of prelamin A show increased DNA damage and chromosome aberrations and have increased ... Cells of affected individuals have reduced lifespan in culture, more chromosome breaks and translocations and extensive ...

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

"Structural aberrations of chromosome 7 revealed by a combination of molecular cytogenetic techniques in myeloid malignancies". ... "C7orf43 chromosome 7 open reading frame 43 [ Homo sapiens (human) ]". NCBI Gene. Retrieved 9 May 2015. "BC037034 cDNA sequence ... In humans, MAP11 is located in the long arm of human chromosome 7 (7q22.1), and is on the negative (antisense) strand. Genes ... Through its location in the q arm of chromosome 7, C7orf43 has been linked to various diseases. Several diseases have been ...

https://en.wikipedia.org/wiki/MAP11

Genetic Broadly speaking, genetic diseases are caused by aberrations in genes or chromosomes. Many genetic diseases are ...

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

November 2011). "Chromosome aberrations in peripheral blood lymphocytes of individuals living in high background radiation ... On the other hand, there may be non-cancer effects from the background radiation such as chromosomal aberrations. At the same ...

https://en.wikipedia.org/wiki/Linear_no-threshold_model

"Renal and Urinary Tract Abnormalities Associated with Chromosome Aberrations," International Journal of Pediatric Nephrology 8 ... "An Infant with Deletion of the Distal Long Arm of Chromosome 15 (q26.1----qter) and Loss of Insulin-like Growth Factor 1 ... Most cases have been attributed to a mutation on chromosome 10p which affects the GATA3 gene. Inheritance is likely autosomal ...

https://en.wikipedia.org/wiki/Amin_J._Barakat

Schröder H, Heimers A, Frentzel-Beyme R, Schott A, Hoffman W (2003). "Chromosome Aberration Analysis in Peripheral Lymphocytes ...

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

... or 1q21.1 (recurrent) microduplication is a rare aberration of chromosome 1.[citation needed] In a ... In 1q21.1, the '1' stands for chromosome 1, the 'q' stands for the long arm of the chromosome and '21.1' stands for the part of ... In this way the number of chromosomes will be halved in each cell, while all the parts on the chromosome (genes) remain, after ... Similar observations were done for chromosome 16 on 16p11.2 (deletion: autism/duplication: schizophrenia), chromosome 22 on ...

https://en.wikipedia.org/wiki/1q21.1_duplication_syndrome

Hande MP, Azizova TV, Burak LE, Khokhryakov VF, Geard CR, Brenner DJ (2005). "Complex chromosome aberrations persist in ... "Stable intrachromosomal biomarkers of past exposure to densely ionizing radiation in several chromosomes of exposed individuals ... individuals many years after occupational exposure to densely ionizing radiation: An mFISH study". Genes, Chromosomes and ...

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

The most frequently used tests in research projects of this lab are based on cell culture and include: chromosome aberrations ... Chromosome aberrations analysis; Cytokinesis-block micronucleus cytome assay; Sister-chromatid exchange assay; Allium assay; ... Expert activity of the Laboratory for Cytogenetics and Genotoxicology mainly includes chromosome analysis and karyotyping of ...

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

A pseudogene has been identified on chromosome 17. The human gene PSMD7 has 7 Exons and locates at chromosome band 16q22.3. The ... Several experimental and clinical studies have indicated that aberrations and deregulations of the UPS contribute to the ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome 16). ...

https://en.wikipedia.org/wiki/PSMD7

The role of HAP1 in HD pathogenesis may involve aberration of cell cycle processes, as high immunostaining of HAP1 during the ... It may have a part in spindle orientation, microtubule stabilization or chromosome movement. More importantly, HAP1 may also ... Genes on human chromosome 17, Human gene pages with Wikidata item, Wikipedia articles incorporating text from the United States ...

https://en.wikipedia.org/wiki/Huntingtin-associated_protein_1

... has a role in X chromosome inactivation, in maintenance of stem cell fate, and in imprinting. Aberrant expression of PRC2 ... Chase A, Cross NC (May 2011). "Aberrations of EZH2 in cancer". Clinical Cancer Research. 17 (9): 2613-2618. doi:10.1158/1078- ...

https://en.wikipedia.org/wiki/PRC2

In 1938 Sax published a paper entitled "Chromosome Aberrations Induced by X-rays," which demonstrated that radiation could ... noted for his research in cytogenetics and the effect of radiation on chromosomes. Sax was born in Spokane, Washington in 1892 ... induce major genetic changes by affecting chromosomal translocations, a chromosome abnormality. The paper is thought to mark ...

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

Pseudogenes have been identified on chromosomes 2 and 12. The gene has 6 exons and locates at chromosome band 17q12. The human ... Several experimental and clinical studies have indicated that aberrations and deregulations of the UPS contribute to the ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome). ...

https://en.wikipedia.org/wiki/PSMB3

"Gene for the catalytic subunit of the human DNA-activated protein kinase maps to the site of the XRCC7 gene on chromosome 8". ... interfering with DNA repair by non-homologous end joining and causing chromosomal aberrations. The let-7a microRNA normally ... Genes on human chromosome 8, All articles with unsourced statements, Articles with unsourced statements from December 2019, EC ...

https://en.wikipedia.org/wiki/DNA-PKcs

... have similar chromosomes but with increasing distance chromosomes tend to break and fuse and thus result in mosaic chromosomes ... such as translocations and inversions which are hallmark aberrations seen in many types of leukemia and lymphoma. Spectral ... FISH can be used to study the evolution of chromosomes. Species that are related have similar chromosomes. This homology can be ... Probes that hybridize along an entire chromosome are used to count the number of a certain chromosome, show translocations, or ...

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

Mouse cells deficient for maturation of prelamin A show increased DNA damage and chromosome aberrations and are more sensitive ... and thus can be correctly repaired using the complementary undamaged sequence in a homologous chromosome if it is available for ...

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

Telomeres protect the end of the chromosome from DNA damage or from fusion with neighbouring chromosomes. The fruit fly ... and aberration of the PP2A protein phosphatase. That is to say, the cell has an activated telomerase, eliminating the process ... Exposed chromosome ends are interpreted as double-stranded breaks (DSB) in DNA; such damage is usually repaired by reattaching ... Cri du chat syndrome (CdCS) is a complex disorder involving the loss of the distal portion of the short arm of chromosome 5. ...

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

PKS is due to the presence of an extra and abnormal chromosome termed a small supernumerary marker chromosome (sSMC). sSMCs ... a rare egg with the nondisjunction acquires a second structural aberration, isochromosome formation, that results in the ... The sSMC in PKS consists of multiple copies of the short (i.e. "p") arm of chromosome 12. Consequently, the multiple copies of ... One suggested mechanism for the development of the sSMC in PKS involves three sequential events: 1) chromosome 12 suffers a ...

https://en.wikipedia.org/wiki/Pallister–Killian_syndrome

The paternal age is a factor in schizophrenia because of the increased likelihood of mutations in the chromosomes of cells that ... Increased paternal age has been linked to schizophrenia, possibly due to "chromosomal aberrations and mutations of the aging ... "Getting crowded on chromosome 11q22 - make way for phosphohippolin". Schizophrenia Research Forum. 14 March 2007. Archived from ... Within them, deletions in regions related to psychosis were observed, as well as deletions on chromosome 15q13.3 and 1q21.1. ...

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

Another study hypothesized that epigenetic changes on the Y chromosome could explain differences in lifespan among the male ... However, the exchange of epigenetic information between generations can result in epigenetic aberrations, which are epigenetic ... Specifically, the paternally derived chromosome carried an abnormal maternal mark at the SNURF-SNRPN, and this abnormal mark ... were causing these syndromes were localized on a chromosome with a specific parental and grandparental origin. ...

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

Several experimental and clinical studies have indicated that aberrations and deregulations of the UPS contribute to the ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome 9). ...

https://en.wikipedia.org/wiki/PSMD5

These aberrations can be monitored using fluorescent in situ hybridization (FISH) with DNA probes to assess the effects of ... Eastmond, D.A.; Rupa, DS; Hasegawa, LS (2000). "Detection of hyperdiploidy and chromosome breakage in interphase human ... Benzene causes chromosomal aberrations in the peripheral blood leukocytes and bone marrow explaining the higher incidence of ... which maintains chromosome structure), disruption of microtubules (which maintains cellular structure and organization), ...

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

The newly synthesized truncated chromosome can then be altered through the insertion of new genes for desired traits. The top- ... Minichromosomes may be created by natural processes as chromosomal aberrations or by genetic engineering. Minichromosomes can ... Minichromosome technology allows for the stacking of genes side-by-side on the same chromosome thus reducing likelihood of ... By minimizing the amount of unnecessary genetic information on the chromosome and including the basic components necessary for ...

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

When the chromosome is replicated, this gives rise to one daughter chromosome that is heavily methylated downstream of the ... and chromosomal aberrations. However, it has become apparent that cancer is also driven by epigenetic alterations. Epigenetic ... All DNA damage response requires either ATM or ATR because they have the ability to bind to the chromosomes at the site of DNA ... This pathway allows a damaged chromosome to be repaired using a sister chromatid (available in G2 after DNA replication) or a ...

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

These mutations in the chromosomes can affect the appearance, the number of sets, or the number of individual chromosomes. ... Both alterations can lead to chromosomal aberrations, unintentional genetic rearrangement, and a variety of cancers later in ... Since chromosomes are fixed for each specific species, it can also change the DNA and cause defects in the genepool of that ... Each eukaryotic chromosome is composed of many replicating units of DNA with multiple origins of replication. In comparison, ...

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

In Turner syndrome there is a demonstrable abnormality in or absence of one of the sex chromosomes that is the cause of the ... In the latter a distinct chromosomal aberration is present, while in PGD the chromosomal constellation is either 46,XX or 46,XY ... The karyotype reveals XX chromosomes and the imaging demonstrates the presence of a uterus but no ovaries (the streak gonads ... In contrast XX gonadal dysgenesis has a normal female chromosome situation.[citation needed] Another type of XX gonadal ...

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

The mole cricket chromosome number varies between 19 and 23 chromosomes depending on the part of the world in which they are ... Paulsson K, Johansson B (February 2007). "Trisomy 8 as the sole chromosomal aberration in acute myeloid leukemia and ... In the fruit fly, Drosophila, one X chromosome in the male is almost the same as two X chromosomes in the female in terms of ... Polysomy of chromosomes 1, 2, 4, 5, and 25 are also frequently involved in canine tumors. Chromosome 1 may contain a gene ...

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

The human gene PSMD14 has 12 Exons and locates at chromosome band 2q24.2. The human protein 26S proteasome non-ATPase ... Several experimental and clinical studies have indicated that aberrations and deregulations of the UPS contribute to the ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 2). ...

https://en.wikipedia.org/wiki/PSMD14

... a chromosome rearrangement involving two or more chromosomes or by multiple chromosome aberrations within a single chromosome ( ... The derivative chromosome must be specified in parentheses followed by all aberrations involved in this derivative chromosome. ... A derivative chromosome (der) is a structurally rearranged chromosome generated either by ... e.g. an inversion and a deletion of the same chromosome, or deletions in both arms of a single chromosome).[1] The term always ...

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

The human IL-11 gene, consisting of 5 exons and 4 introns, is located on chromosome 19, and encodes a 23 kDa protein. IL-11 is ... This process is highly regulated due to detrimental consequences that can arise from aberrations of the placentation process: ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 19, Interleukins). ...

https://en.wikipedia.org/wiki/Interleukin_11

... including groups with the chromosome rearrangements inv(16)(p13q22) and t(8;21)(q22;q22). The chromosome translocation t(8;21)( ... and RUNX1 genes results in ETV6-RUNX1 gene fusion and is the most common genetic aberration in childhood acute lymphoblastic ... The pericentric chromosome inversion inv(16)(p13q22) creates the CBFB-MYH11 fusion gene, which encodes the CBFβ-SMMHC fusion ... The chromosome translocation t(12;21) (p13.1;q22) causes the fusion of the ETS variant 6 (ETV6) ...

https://en.wikipedia.org/wiki/AI-10-49

"Detection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization using chromosome-specific ... Fall and resurrection of chromosome territories during the 1950s to 1980s. Part III. Chromosome territories and the functional ... "Specific staining of human chromosomes in Chinese hamster x man hybrid cell lines demonstrates interphase chromosome ... Cremer T, Cremer C, Schneider T, Baumann H, Hens L, Kirsch-Volders M (1982). "Analysis of chromosome positions in the ...

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

... red panda and five Mustelid species revealed by comparative chromosome painting and G-banding". Chromosome Research. 10 (3): ... The domestic cat has slit pupils, which allow it to focus bright light without chromatic aberration. At low light, a cat's ... The domesticated cat and its closest wild ancestor are diploid and both possess 38 chromosomes and roughly 20,000 genes. The ...

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

Biodosimetry : chromosome aberration in lymphocytes and electron paramagnetic resonance in tooth enamel from atomic bomb ... Methods for the analysis of human chromosome aberrations / edited by K. E. Buckton, H. J. Evans ... Méthodes danalyse des aberrations chromosomiques humaines / rédigé par K. E. Buckton, H. J. Evans ...

https://apps.who.int:80/iris/browse?locale-attribute=de&authority=Chromosome+Aberrations&type=mesh

You have to enable JavaScript in your browsers settings in order to use the eReader.. Or try downloading the content offline. DOWNLOAD ...

https://ehp.niehs.nih.gov/doi/epdf/10.1289/ehp.7719145

https://extranet.who.int/iris/restricted/browse?locale-attribute=es&authority=Chromosome+Aberrations&type=mesh

Chromosome aberrations in cultured rat bone marrow cells treated with inorganic fluorides. Author: Khalil AM. ... A specificity of fluoride ion in inducing chromosome aberrations (CA) was indicated by the observation that both NaF and KF ... and measuring the incidence of cells with aberrations and number of breaks per cell. Both forms of fluoride were found to be ...

https://fluoridealert.org/studytracker/15588/

Detection and isolation of induced chromosome aberrations in Lepidoptera. 1979. Ennis, T.J. Forest Pest Management Institute, ...

https://cfs.nrcan.gc.ca/publications?id=35267

Various genomic disorders on chromosome 22, including cats eye syndrome caused by extra copies of the proximal region of the ... span,,b,Objective,/b, A significant number of genetic variations have been identified in chromosome 22, using molecular genetic ... 22q chromosome, are now well-defined. O,/span, … ... Clinical Features of Aberrations Chromosome 22q: A Pilot Study ... Clinical Features of Aberrations Chromosome 22q: A Pilot Study Emine Ikbal Atli et al. Glob Med Genet. 2021. . ...

https://pubmed.ncbi.nlm.nih.gov/35169783

Relationship of DNA repair and chromosome aberrations to potentially lethal damage repair in X-irradiated mammalian cells. ... Relationship of DNA repair and chromosome aberrations to potentially lethal damage repair in X-irradiated mammalian cells. ... Relationship of DNA repair and chromosome aberrations to potentially lethal damage repair in X-irradiated mammalian cells. ...

https://connects.catalyst.harvard.edu/Profiles/display/1098043

... for individuals with 1 chromosome 9 aberration and ,/=2 chromosome 9 aberrations, respectively. By performing family history ... One hundred metaphases from PBLs of each subject were analyzed for chromosome 9 aberrations using the whole chromosome painting ... for lung cancer associated with chromosome 9 aberrations. When subjects were categorized by frequencies of the chromosome 9 ... Cytogenetic aberrations on chromosome 9 have been reported to be one of the most frequent genetic changes in lung tumorigenesis ...

https://edrn.nci.nih.gov/data-and-resources/publications/12432559-a-case-control-analysis-of-lymphocytic-chromosome-9-aberrations-in-lung-cancer/

Effect of pretreatment with venom of Apis mellifera bees on the yield of gamma-ray induced chromosome aberrations in human ... Effect of pretreatment with venom of Apis mellifera bees on the yield of gamma-ray induced chromosome aberrations in human ...

https://repositorio.unesp.br/handle/11449/223966

Keyword : chromosome aberrations. Polymorphism of DNA repair gene XPD Lys751Gln and chromosome aberrations in lymphocytes of ...

https://exp-oncology.com.ua/tag/chromosome-aberrations

Chromosome aberrations and radiation-induced cell death. II. Predicted and observed cell survival. (English) ... Chromosome aberrations and radiation-induced cell death. II. Predicted and observed cell survival.. scientific article ...

https://m.wikidata.org/wiki/Q53966528

Methods for the analysis of human chromosome aberrations / edited by K. E. Buckton, H. J. Evans. by Buckton, K. E , Evans, H. J ... Methods for the analysis of human chromosome aberrations.Availability: Items available for loan: WHO HQ (1)Call number: QH 462. ... Méthodes danalyse des aberrations chromosomiques humaines / rédigé par K. E. Buckton, H. J. Evans. by Buckton, K. E , Evans, H ... analyse des aberrations chromosomiques humaines.Availability: Items available for loan: WHO HQ (3)Call number: QH 462.A1 73ME ...

https://kohahq.searo.who.int/cgi-bin/koha/opac-search.pl?q=su:%7BChromosome%20aberrations%7D

G2-Chromosome aberrations induced by high-let radiations. T. Kawata, M. Durante, Y. Furusawa, K. George, H. Ito, H. Wu, F. A. ... G2-Chromosome aberrations induced by high-let radiations. / Kawata, T.; Durante, M.; Furusawa, Y.; George, K.; Ito, H.; Wu, H ... title = "G2-Chromosome aberrations induced by high-let radiations",. abstract = "We report measurements of initial G2-chromatid ... Kawata, T, Durante, M, Furusawa, Y, George, K, Ito, H, Wu, H & Cucinotta, FA 2001, G2-Chromosome aberrations induced by high- ...

https://keio.pure.elsevier.com/en/publications/g2-chromosome-aberrations-induced-by-high-let-radiations

... ...

https://repository.ubn.ru.nl/handle/2066/122269

title = "Chromosome aberration analysis in radiological protection dosimetry",. abstract = "Chromosome dosimetry has become ... Chromosome aberration analysis in radiological protection dosimetry. Radiation Protection Dosimetry. 1981;1(1):19-28. ... Lloyd, David ; Purrott, R. J. / Chromosome aberration analysis in radiological protection dosimetry. In: Radiation Protection ... Chromosome aberration analysis in radiological protection dosimetry. / Lloyd, David; Purrott, R. J. ...

https://researchportal.ukhsa.gov.uk/en/publications/chromosome-aberration-analysis-in-radiological-protection-dosimet

... stature in each of these patients has been explained by the effect of imprinting of growth-related genes on maternal chromosome ... Uniparental disomy for maternal chromosome 7 has been described in three patients with recessive disorders. Short ... Chromosome Aberrations* * Chromosome Mapping * Chromosomes, Human, Pair 7* * DNA / blood * Diarrhea, Infantile / congenital ... Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride ...

https://pubmed.ncbi.nlm.nih.gov/7942853/?dopt=Abstract

These data predict no increased risk of chromosome abnormality in future pregnancies after either (1) spontaneous abortions ... likely explanation is that the increased recurrence risk for trisomy is restricted to trisomy for only one or a few chromosomes ...

https://pubmed.ncbi.nlm.nih.gov/3631080/

DNA and chromosome aberrations; structural biology and molecular applications; tumor biology and microenvironment; and tumor ...

https://www.nih.gov/about-nih/what-we-do/nih-almanac/national-cancer-institute-nci

Study Evaluating SKI-606 (Bosutinib) In Japanese Subjects With Philadelphia Chromosome Positive Leukemias. The safety and ... This is a two-part safety and efficacy study of SKI-606 in subjects who have Philadelphia chromosome positive leukemias (CML). ... Philadelphia Chromosome. Neoplasms by Histologic Type. Neoplasms. Myeloproliferative Disorders. Bone Marrow Diseases. ... Subjects with Philadelphia chromosome negative Chronic Myelogenous Leukemia.. *Overt leptomeningeal leukemia. Subjects must be ...

https://clinicaltrials.gov/ct2/show/NCT00811070?term=bosutinib&rank=17

Patients with chronic lymphocytic leukemia (CLL) harboring TP53 aberrations (TP53abs; chromosome 17p deletion and/or TP53 ... Chromosome 8 abnormalities, namely losses of 8p (8p-) and gains of 8q (8q+) have been suggested to aggravate the outcome of ... rather than chromosome 8 abnormalities aggravates the outcome of chronic lymphocytic leukemia patients with TP53 aberrations. ... In conclusion, our results highlight the association of chromosome 8 abnormalities with CK amongst CLL patients with TP53abs, ...

https://publications-affiliated.scilifelab.se/publication/304b8c449384499ea5fbdce87567f3a2

Molecular cytogenetic diagnosis of submicroscopic chromosome aberrations (FISH) Kennedy Center. Purpose(s) : Post-natal ... Diagnosis of uniparental disomy of chromosome 14 (methylation of 14q32 region; MEG3 and DLK1 genes) AP-HP.Sorbonne Universit - ... Diagnosis of uniparental disomie of chromosome 11 AP-HP.Universit Paris Saclay - H pital Antoine B cl re ... Diagnosis of uniparental disomie of chromosome 14 AP-HP.Universit Paris Saclay - H pital Antoine B cl re ...

https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=16905&Typ=Pat&fdp=y&from=rightMenu

Sex Chromosome Aberrations and Learning Disorders Hyperactivity Tourette"s Syndrome 10. Visual-Spatial Disorders. Overview ...

https://www.elsevier.com/books/topics-in-behavioral-neurology-and-neuropsychology/hier/978-0-409-95165-3

... the incidence of unstable type aberrations and intracellular complexity of chromosome aberrations were much higher in the ... Micronuclei and Chromosome Aberrations Found 1n Bone Marrow Cells and Lymphocytes from Thorotrast Patients and Atomic Bomb ... Micronuclei and Chromosome Aberrations Found 1n Bone Marrow Cells and Lymphocytes from Thorotrast Patients and Atomic Bomb ... Micronuclei and Chromosome Aberrations Found 1n Bone Marrow Cells and Lymphocytes from Thorotrast Patients and Atomic Bomb ...

https://ir.lib.hiroshima-u.ac.jp/en/list/department/28/p/2/item/38178

Chromosomal abnormalities - Aberrations of autosomes and sex chromosomes. * Intrauterine growth retardation - Infections, ...

https://www.medscape.com/answers/922543-179136/which-conditions-should-be-included-in-the-differential-diagnoses-of-secondary-growth-disorders-in-hyposomatotropism-growth-hormone-deficiency-ghd

Chromosome Aberrations / statistics & numerical data * Chromosomes, Human, Pair 1 * Chromosomes, Human, Pair 11 ...

https://pubmed.ncbi.nlm.nih.gov/20080471/?dopt=Abstract

The aims of the present work were to investigate the different types of chromosomal aberrations and their relative frequencies in a group of children with suspected genetic disorders and to identify precisely the role of cytogenetic investigation in confirming the diagnosis, thus allowing proper genetic counselling to be offered. (who.int)
Therefore, we investigated the possible genotoxic effects of propofol and diazepam in those patients, using a chromosomal aberration (CA) assay. (nih.gov)
100-250 metaphase cells per dose group were examined for chromosomal aberrations at 900x magnification by phase-contrast microscopy. (europa.eu)
15. Chromosomal aberrations in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma unspecified: A matrix-based CGH approach. (nih.gov)
The induction of chromosomal aberrations in human pleural mesothelial cells by asbestos (1332214) was studied in-vitro. (cdc.gov)
Cultures were examined for chromosomal aberrations and aneuploidy 24 hours after treatment. (cdc.gov)
They were examined for chromosomal aberrations at every passage 3 to 5 days after subculturing. (cdc.gov)
Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis. (mpg.de)
Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation. (mpg.de)
Overall, 5.8% of 2013 CML patients in the study carried abnormalities in chromosome 3, with chromosomal 3q26.2 rearrangements making up 50% of cases. (news-medical.net)
Multivariate analysis also determined that overall survival was significantly poorer in 23 patients with only 3q26.2 rearrangements than in 248 patients whose chromosomal aberrations did not affect chromosome 3, including those who had trisomy 8. (news-medical.net)
By contrast, patients with chromosomal aberrations not affecting chromosome 3 had a poorer survival if they had multiple aberrations rather than just one abnormality. (news-medical.net)
Such imbalances indicate large-scale chromosomal aberrations (i.e., losses and gains of long segments of DNA) that have proliferated to significant frequency in the blood. (ukbiobank.ac.uk)
Strikingly, an increased propensity for asymmetric fork progression and profuse chromosomal aberrations upon mild DNA damage confirmed that TSC loss indeed proved detrimental to stress adaptation. (oncotarget.com)
Effect of low-level pulsed electromagnetic fields on human chromosomes in vitro: analysis of chromosomal aberrations. (emf-portal.org)
In Vitro Assessment of Clastogenicity of Mobile-Phone Radiation (835 MHz) Using the Alkaline Comet Assay and Chromosomal Aberration Test,'' Environmental Toxicology, 23, pp.319-327, 2008 (Korea). (stopumts.nl)
CONCLUSION: Loss of chromosome 3 as well as loss of chromosomal region 9p21 (that entails tumour suppressor gene CDKN2A) plays a role in iris melanoma. (eyehospital.nl)
Anthracycline treatment is associated with secondary clonal chromosomal aberrations that can lead to therapy-related secondary myeloid neoplasms. (elsevier.com)
Results: Cytogenetic examination of short-term cultured cells from the Hoffa's pad revealed a balanced t(12;18)(q14;q21) translocation as the sole chromosomal aberration. (iiarjournals.org)
Screening for aneuploidies and structural chromosomal aberrations (deletions or duplications) accross the fetal genome, providing karyotype-level insight. (prenataladvance.it)

As two cytogenetic parameters of radiation exposure, the frequency of micronucleus in erythroblasts, lymphocytes and red cells (Howell-Jolly body) as well as chromosome aberrations in bone marrow cells and in lymphocytes were studied in 24 thorotrast patients and in 32 atomic bomb (A-bomb) survivors who were exposed within one kilometer from the Hiroshima hypocenter. (hiroshima-u.ac.jp)
Chromosome aberrations in lymphocytes of workers exposed to styrene. (sjweh.fi)
Chromosome aberrations in cultured human lymphocytes exposed to trivalent and pentavalent arsenic. (sjweh.fi)
code = 46 result sql = The effects of food protector biphenyl on sister chromatid exchange, chromosome aberrations, and micronucleus in human lymphocytes. (naturalnews.com)
code = 62 result sql = The aim of this study was to determine the possible genotoxic effects of biphenyl (E230), which is used as an antimicrobial agent in food by using sister chromatid exchanges (SCEs), chromosome aberrations (CAs), and micronucleus (MN) tests in human peripheral lymphocytes. (naturalnews.com)
Cytogenetic effects of pulsing electromagnetic field on human lymphocytes in vitro: chromosome aberrations, sister-chromatid exchanges and cell kinetics. (emf-portal.org)
Bender and Gooch [3] proposed the assessment of the frequency dicentric chromosomes (DCs) in peripheral blood lymphocytes of exposed individuals for the detection of human radiation exposure. (genome-integrity.org)

As a result, different cells within the same tumor can look quite different, with different numbers of chromosomes and unique mutations, for example. (quantamagazine.org)
Double-strand breaks are more devastating, with poor repair resulting in mutations, chromosome aberrations and cell death. (scielo.org.za)
In addition, iris melanomas might harbour UV-induced mutations of tumour suppressor genes, such as PTEN and CDKN2A.METHODS: Twenty iris melanomas were analysed for chromosome 1p, 3, 6, 8, 9p and 10q abnormalities using fluorescence in situ hybridisation. (eyehospital.nl)
Undifferentiated thyroid carcinomas (UTC) may display RET rearrangements (less than 10%) or point mutations in RAS (20-60%) or BRAF (0-63%), as well as mutations in TP53 (up to 60%), which is in accordance with the hypothesis that most UTC originate from well-differentiated lesions through the multi-step accumulation of genetic aberrations [ 2 , 4 ]. (biomedcentral.com)
The nature of ionizing these effects can vary significant- fects, including DNA damage, chro- radiation ly, depending on the resulting dose mosomal aberrations, mutations, cell distribution or distribution of radionu- transformation, and cell killing (NRC, Ionizing radiation is a term used for clides throughout the body. (who.int)
Recent studies have demonstrated, by inter-phase fluorescence in situ hybridization (iFISH) [ 5 ] and flow cytometry [ 6 ], the heterogeneity of MM cells at genetic (chromosome number, genetic translocations and mutations), clonal and cell differentiation levels. (oncotarget.com)

1993). These genetically related chromosomes in different genomes are called homoeologous as compared to essentially genetically identical homologous pairs of chromosomes in diploid species. (fao.org)
There are 23 pairs of chromosomes, for a total number of 46 chromosomes in a diploid cell, or a cell having all the genetic material. (encyclopedia.com)
remember that humans have 23 pairs of chromosomes. (corvidresearch.blog)
Updates* a previous version of this post contained a typo stating that humans have 24 pairs of chromosomes. (corvidresearch.blog)

The incidence of both micronucleus and chromosome aberrations in these two exposed groups were significantly higher than that in non-exposed controls. (hiroshima-u.ac.jp)
Because of its simple procedures, micronucleus test is also helpful as screening for prediction of chromosome aberrations. (hiroshima-u.ac.jp)
31. Celik A, Comelekoglu U, Yalin S. A study on the investigation of cadmium chloride genotoxicity in rat bone marrow using micronucleus test and chromosome aberration analysis. (bvsalud.org)

And my lecture will be on the role played by chromosome translocations in cancer development. (hstalks.com)
Tulay P, Gultomruk M, Findikli N, Bahceci M. (2014) Poor embryo development and preimplantation genetic diagnosis outcomes of translocations involving chromosome 10: Do we blame genetics? (neu.edu.tr)
A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2. (semanticscholar.org)

Short stature in each of these patients has been explained by the effect of imprinting of growth-related genes on maternal chromosome 7. (nih.gov)
These changes can affect many genes along the chromosome and disrupt the proteins made from those genes. (medlineplus.gov)
As a result, these abnormal chromosomes have an extra copy of some genes and are lacking copies of genes on the missing arm. (medlineplus.gov)
Whereas earlier studies could look only at rough measures, such as the number of chromosomes in a cell, scientists can now record the number of copies of multiple genes in each cell and in some cases read the entire genome, which gives a more precise picture of the genetic diversity among single cells. (quantamagazine.org)
Sears and Sears, 1978) began studies with wheat aneuploids that ushered in the era of formal cytogenetic analysis and gene mapping of individual chromosomes and arms in wheat (a catalogue of mapped genes is published each year, see McIntosh et al . (fao.org)
Genes are expressed when the chromosome uncoils with the help of enzymes called helicases and specific DNA binding proteins. (encyclopedia.com)
We provide the genomic background of seven independent thyroid carcinoma models representative of the clinical tumors of the corresponding histotypes, and highlight regions of recurrent aberrations that may guide future studies aimed at identifying target genes. (biomedcentral.com)

The University of Leicester's Virtual Genetics Education Center provides an explanation of structural chromosome aberrations . (medlineplus.gov)
Your Genome from the Wellcome Genome Campus discusses chromosome disorders , including types of structural abnormalities in chromosomes that are involved in genetic diseases. (medlineplus.gov)
In an in vitro cytogenicity study in mammalian cells (chromosome aberration), conducted according to OECD Test Guideline 473 and in compliance with GLP (Bioservice Scientific Laboratories, 2012, reliability score 1), the potential of triethoxy(3-thiocyanatopropyl)silane to induce structural chromosome aberrations in Chinese hamster V79 cells was evaluated. (europa.eu)
It is concluded that the test substance was clastogenic to mammalian cells (caused structural aberrations in chromosomes) under the conditions of the test. (europa.eu)
1991) Standard karyotype and nomenclature system for description of chromosome bands and structural aberrations in wheat (Triticum aestivum). (usda.gov)
METHODS: We examined the incidence of chromosome and chromatid breaks, fragments, structural rearrangements and aneuploidies in 100 metaphases for each blood sample. (elsevier.com)
[ 4 ] Numerous structural and numerical aberrations in chromosomes have been reported, the most common of which is translocation (11;14). (medscape.com)

The relative length of chromosome 21 is 1.9 ± 0.17 % of the total length of the human genome, and its size is approximately 60 Mb. (intechopen.com)
The National Human Genome Research Institute provides a list of questions and answers about chromosome abnormalities , including a glossary of related terms. (medlineplus.gov)
Numerous studies since then have confirmed that 1x=7 is the basic chromosome number of the tribe Triticeae (or the basic Triticeae genome is organized into seven chromosomes). (fao.org)
Furthermore, a specific chromosome or part of a chromosome in a basic genome is genetically related to a specific chromosome or a part of it in all other genomes of the Triticeae species. (fao.org)
In prokaryotes, or cells without a nucleus, the chromosome represents circular DNA containing the entire genome. (encyclopedia.com)
Click below on the chromosome of interest to view the UCSC Genome Browser with a track showing NCBI RefSeq Gene predictions and a track showing NIGMS Repository samples bearing copy number variants (CNVs) on that chromosome. (coriell.org)
The underlying assumption is that there are two copies of each autosomal chromosome in the human genome, and the goal of these algorithms is to estimate the size and location of regions which are significantly different from this assumption. (biomedcentral.com)

Clonal chromosome aberrations were detected in 8 short‐term cultured malignant peripheral nerve sheath tumors (MPNST). (semanticscholar.org)
Three previous investigations have reported a relationship between clonal chromosome abnormalities in marrow of patients with acute nonlymphocytic leukemia and employment in occupations involving mutagenic chemicals, but the effects of other exposures were not described. (northwestern.edu)

0.05) higher incidence of a complex karyotype (CK, ≥3 abnormalities) detected by chromosome banding analysis (CBA) compared to cases with normal 8p (N-8p) and 8q (N-8q), respectively. (scilifelab.se)
Thus it happened that the second smallest chromosome, chromosome 21, which had been analysed three times in the patient's karyotype, was believed to cause Down Syndrome (DS). (intechopen.com)
On each karyotype page is a filter tool to display samples based on Chromosome # of the abnormality. (coriell.org)

chromosome 17p deletion and/or TP53 mutation) exhibit an unfavorable clinical outcome. (scilifelab.se)

Various genomic disorders on chromosome 22, including cat's eye syndrome caused by extra copies of the proximal region of the 22q chromosome, are now well-defined. (nih.gov)
Uniparental disomy for maternal chromosome 7 has been described in three patients with recessive disorders. (nih.gov)

We report on the clinical and molecular characterization of 31 individuals with distal deletions and duplications of chromosome 22q. (nih.gov)
Deletions can be large or small, and can occur anywhere along a chromosome. (medlineplus.gov)
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. (mpg.de)
Loss of chromosome 9p was demonstrated in seven tumours, but no deletions of the PTEN region on chromosome 10 were found. (eyehospital.nl)

Aneuploidy Screening on chromosomes 13, 18, 21 and fetal gender determination. (prenataladvance.it)

MATERIALS AND METHODS: We exposed normal human bronchial lung epithelial (NHBE) cells in vitro to 0.5 and 1 Gy low-linear energy transfer (LET) γ-rays and a low fluence of high-LET α-particles and assayed for chromosome aberrations in premature chromosome condensation (PCC) spreads by 24-color multiplex-fluorescence in situ hybridization (M-FISH). (ox.ac.uk)
Chromosomes are usually presented and analysed in the metaphase of mitosis after in vitro cultivation, which is not identical to their appearance in vivo . (intechopen.com)
Cobalt Borate Neodecanoate Complex: In Vitro Mammalian Chromosome Aberration Test in Chinese Hamster Ovary Cells. (epa.gov)
Cobalt Naphthenate: In Vitro Mammalian Chromosome Aberration Test in Chinese Hamster Ovary Cells. (epa.gov)

The genotoxic effects of inorganic fluorides were investigated by treating cultured rat bone marrow cells with varying concentrations (0.1-100 microM) of potassium fluoride (KF) and sodium fluoride (NaF) for different durations (12, 24 and 36 h) and measuring the incidence of cells with aberrations and number of breaks per cell. (fluoridealert.org)
Relationship of DNA repair and chromosome aberrations to potentially lethal damage repair in X-irradiated mammalian cells. (harvard.edu)
Cytogenetic response (CyR) is based on the prevalence of Philadelphia chromosome positive (Ph+) cells. (clinicaltrials.gov)
Reduced chromosome aberration complexity in normal human bronchial epithelial cells exposed to low-LET γ-rays and high-LET α-particles. (ox.ac.uk)
Autosomes in somatic cells are comprised of two homologous, genetically identical chromosomes. (intechopen.com)
Usually the total chromosome count was determined in 10-15 cells, but if mosaicism was suspected then 30 or more cell counts were undertaken [10]. (who.int)
Many cancer cells also have changes in their chromosome structure. (medlineplus.gov)
Both arsenite and arsenate are genotoxic and capable of inducing sister chromatid exchange and chromosome aberrations in human and rodent cells. (news-medical.net)
Amosite at 0.14 and 0.27microg/cm2 induced a significant incidence of chromosome aberrations, mostly chromatid breaks and gaps, in mesothelial cells. (cdc.gov)
Altered cells had a modal chromosome number of 45 and lacked the Y- chromosome. (cdc.gov)
The authors conclude that amosite and glass fibers induce chromosome aberrations in human pleural mesothelial cells. (cdc.gov)
Cancer cells possess unstable genomes - meaning their chromosomes can gain and lose pieces with disturbing speed - and they grow rapidly, creating a genetically diverse population. (quantamagazine.org)
The latest research shows that chromosome aberrations and DNA damage can accumulate in these cells. (cnio.es)
We observed cell reprogramming in the absence of SIRT1, but over time the produced iPS cells lengthen telomeres less efficiently and suffer from chromosome aberrations and DNA damage," says De Bonis. (cnio.es)
Chromosome abnormalities in reprogrammed cells in which SIRT1 protein has been removed (in red). (cnio.es)
A chromosome is a threadlike structure found in the nucleus of most cells that carries the genetic material in the form of a linear sequence of deoxyribonucleic acid (DNA). (encyclopedia.com)
In eukaryotes, or cells with a distinct nucleus, chromosomes are much more complex in structure. (encyclopedia.com)
If the one of the sex cells has the full complement of chromosomes (diploidy), then the zygote would have an extra set of chromosomes. (encyclopedia.com)
During meiosis, two rounds of cell division ensure that the sex cells receive the haploid number of chromosomes. (encyclopedia.com)
RESULTS: The proportion of cells with chromatid and chromosome breaks ranged from 0% to 6% in patients before treatment and from 1% to 5% in controls. (elsevier.com)
Significant increases in the frequencies of chromosome aberrations were induced in a dose- and treatment time-dependent fashion when NaF was administered to RVBd cells at 0.5 and 1.0 mM for 24 and 48 h. (fluoridealert.org)
Stress, fear, and anxiety have serious affects, as U.S. CIA interrogators know and have been pleased to use even at the expense of accuracy, but they do not cause chromosome damage in germ cells, like soluble uranium(VI) exposure does. (iit.edu)
Chromosome 17 polysomy in circulating tumor cells in patients with metastatic breast cancer: a case series. (jefferson.edu)
The genetic aberrations are presumably acquired by mesenchymal stem cells of the infrapatellar fat pad inducing proliferation and differentiation into adipocytes or other mature connective tissue cells. (iiarjournals.org)
Processed cells were analyzed for the frequencies of dicentric and centric ring chromosomes. (genome-integrity.org)

Basic technical prerequisites for the establishment of capacity of biological dosimetry in the GAEC have been realized and expertise in the dicentric chromosome assay consolidated. (genome-integrity.org)
The conventional dicentric chromosome assay (DCA) which is sufficiently radiation-specific with reproducible dose-response relationship and low background frequency has since been accepted as a biomarker to assess human exposure to ionizing radiation and generally considered as the "gold standard" of the biodosimetric methods. (genome-integrity.org)

Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients. (umassmed.edu)

Twenty two of them are autosomal and the last pair are sex chromosomes (you're either XX or XY, sound familiar? (corvidresearch.blog)

These data predict no increased risk of chromosome abnormality in future pregnancies after either (1) spontaneous abortions with trisomies of a kind that are always lethal in utero or (2) multiple early abortions in the presence of normal parental karyotypes. (nih.gov)

Méthodes d' analyse des aberrations chromosomiques humaines. (who.int)

the incidence of unstable type aberrations and intracellular complexity of chromosome aberrations were much higher in the former group. (hiroshima-u.ac.jp)

The location of this clock gene was delimited by the molecular mapping of chromosome aberrations at or very near the per locus. (cell.com)
The whole cytogenetic enterprise rests on the recognition of homoeology and gene content of individual chromosomes in different genomes of the Triticeae species. (fao.org)
BCL3 is juxtaposed to the immunoglobulin heavy chain gene locus on chromosome 14 (often in the switch alpha region) in a "head-to-head" configuration. (atlasgeneticsoncology.org)
Lecture and discussion cover topics of chromatin and chromosome structure, control of gene transcription, RNA processing, and DNA replication and repair. (wustl.edu)

The most likely explanation is that the increased recurrence risk for trisomy is restricted to trisomy for only one or a few chromosomes, for reasons such as parental trisomy mosaicism. (nih.gov)
To avoid conflict between previous and subsequent publications, the position of the two smallest chromosomes (21 and 22) was switched, resulting in the definition of DS as trisomy 21. (intechopen.com)
We present an unusual case of trisomy 18 due to a pseudodicentric chromosome 18 of paternal origin. (semanticscholar.org)
Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin. (semanticscholar.org)
Amniocentesis was done on a 39-year-old woman at 16 weeks of gestation for rapid prenatal screen (chromosomes 13, 18, 21) and chromosome analysis and a diagnosis of trisomy 18 was reported. (semanticscholar.org)

We investigated whether spontaneous aberrations on chromosome 9 in PBLs are associated with the presence of lung cancer and with a family history of cancer. (nih.gov)
Spontaneous and Radiation-Induced Chromosome Aberrations in Primary Fibroblasts of Patients With Pediatric First and Second Neoplasms. (tu-darmstadt.de)

Our findings suggest that chromosome 9 aberrations in PBLs might be considered a marker of lung cancer predisposition and may be associated with familial aggregation of cancer. (nih.gov)
Our results suggest that chromosome 6, especially the long arm, carries important information for the clinical behavior of NHL. (nebraska.edu)

Conclusion: Our data indicate that Hoffa's disease is a neoplastic process with acquired genetic aberrations similar to those found in many benign tumors of connective tissues. (iiarjournals.org)

This poor prognosis may be related to overexpression of the EVI1 oncogene associated with the chromosome rearrangement, leading to BCR-ABL1 independent signalling, explain Shimin Hu, from the University of Texas MD Anderson Cancer Center in Houston, USA, and co-authors. (news-medical.net)
Finally, patients with abnormalities of chromosome 3 other than 3q26.2 rearrangement had poorer survival than those whose aberrations affected different chromosomes. (news-medical.net)

10. Multipoint interphase FISH in childhood T-acute lymphoblastic leukemia detects subpopulations that carry different chromosome 3 aberrations. (nih.gov)
Overall survival was significantly shorter in patients with 3q26.2 rearrangements than those with different chromosome 3 rearrangements, although patients with deletion or addition of chromosome 3 had comparable survival to those with 3q26.2 changes. (news-medical.net)

Absence of short‐arm telomeres was shown by multicolor FISH, and the results of DNA analysis showed monosomy for loci D18S59 and D18S170 as well as paternal inheritance of the aberrant chromosome. (semanticscholar.org)
Translocation was the most prevalent 50 (25%), followed by hypotriploidy 14 (7%) and monosomy 8 (4%) on chromosome aberration analysis. (bvsalud.org)

A 12-year-old girl with minor facial anomalies, delayed development, abnormal hands, atopic dermatitis, and hearing loss is reported on, and DNA polymorphisms for chromosome 18 showed that the abnormalities of chromosome 18 were paternal in origin. (semanticscholar.org)

Patients with aniridia that is not clearly part of an autosomal dominant trait, and those with coincident systemic malformations, should undergo chromosome analysis (karyotyping) and observation for possible Wilms tumor. (aao.org)

Els nostres resultats mostren doncs una forta tendència linial entre l'edat de l'individu i les anomalies estructurals i disomia del cromosoma 9, així com per a la diploidia, en espermatozoides humans. (uab.cat)

Agilent CGH Analytics software (v3.4) was used to visualize, detect and analyse aberration patterns from CGH microarray profiles. (sigmaaldrich.com)

Boveri proposed that cancer originates in a single cell by mitotic disturbances resulting in chromosome aberrations. (hstalks.com)

A translocation occurs when a piece of one chromosome breaks off and attaches to another chromosome. (medlineplus.gov)
Tulay P, Gultomruk M, Findikli N, Yagmur E, Bahceci M. (2014) Is the interchromosomal effect present in embryos derived from Robertsonian and reciprocal translocation carriers particularly focusing on chromosome 10 rearrangements? (neu.edu.tr)
The presence of a chromosome 11q13 translocation has been associated with an unfavorable prognosis. (medscape.com)

We used chromosome banding analysis and comparative genomic hybridization to profile eight non-medullary thyroid carcinoma cell lines of papillary (TPC-1, FB2, K1 and B-CPAP), follicular (XTC-1) or anaplastic origin (8505C, C643 and HTH74). (biomedcentral.com)
All cellular models displayed genomic aberrations of varying complexity, and recurrent gains at 5p, 5q, 8q, and 20q (6/7 cell lines) and losses at 8p, 13q, 18q, and Xp (4/7 cell lines) were seen. (biomedcentral.com)

7. A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines. (nih.gov)
12. Skin pigmentary anomalies and mosaicism for an acentric marker chromosome originating from 3q. (nih.gov)
18. Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome. (nih.gov)

A case-control analysis of lymphocytic chromosome 9 aberrations in lung cancer. (nih.gov)
Methods for the analysis of human chromosome aberrations. (who.int)
However, in multivariate analysis only CK (HR = 2.47, P = 0.027) maintained independent significance, being associated with a dismal outcome regardless of chromosome 8 abnormalities. (scilifelab.se)
The most commonly affected chromosomes in hPSCs include 1, 8, 10, 12, 17, 18, 20, and X. Although steps can be taken to minimize the appearance of variants within an hPSC culture, current cytogenetic analysis methods cannot detect low levels of mosaicism within a culture. (stemcell.com)
Univariate analysis indicated a lower disease-free survival for patients with diffuse growing melanomas (p=0.01), melanomas that lost a copy of chromosome 3 (p=0.03), or invading the ciliary body (p=0.01). (eyehospital.nl)

Aberrant chromosomes with no ends, i.e., circular. (umassmed.edu)
Additionally, we believe many of the DNA segments targeted for elimination are important for germline chromosome structure and thus understanding how the cell specifically recognizes these sequences will contribute general knowledge of mechanisms ensuring chromosome stability that are essential to prevent aberrant rearrangements. (wustl.edu)

This substance arrests the chromosomes in the c-metaphase of mitosis and, at the same time, increases the contraction of chromosomes, rendering the centromeres and the fissure between the two chromatids visible ( Figure 2a) . (intechopen.com)
It is proposed that a loop-type configuration of sister chromatids took place and that the break-reunion occurred at cross sites of the loop to form an asymmetrical isodicentric chromosome during either mitosis or meiosis. (semanticscholar.org)

The dose response data used to convert aberration yield to equivalent whole-body dose are described. (ukhsa.gov.uk)
A dose-related increase in the number of aberrations was observed at all concentrations tested with and without metabolic activation. (europa.eu)
The data strongly indicate the existence of significant linear (α) and quadratic (β) components and are consistent with those published for the production of chromosome aberrations in comparable absorbed dose ranges. (genome-integrity.org)

These are the two sex chromosomes or gonosomes (X,Y) and the 44 non-sex chromosomes or autosomes, respectively. (intechopen.com)

The origin of the abnormal chromosome was verified by FISH with a painting probe from chromosome 18. (semanticscholar.org)
We report 34 newly diagnosed patients with NHL who had an abnormal chromosome 6 on initial biopsy. (nebraska.edu)

Chromosome aberrations and radiation-induced cell death. (wikidata.org)
To help assess human health risks from such exposures, a better understanding of the frequency and types of chromosome aberration initially-induced in human lung cell types is required to link initial DNA damage and rearrangements with transmission potential and, to assess how this varies with radiation quality. (ox.ac.uk)
2. Cytogenetic and molecular delineation of a region of chromosome 3q commonly gained in marginal zone B-cell lymphoma. (nih.gov)
9. Ring chromosome 7 with amplification of 7q sequences in a pediatric case of hepatosplenic T-cell lymphoma. (nih.gov)
The 82nd Cold Spring Harbor Symposium focused on Chromosome Segregation & Structure and addressed the enormous progress in our understanding of the nature and behavior of chromosomes during the life cycle of the cell. (cshlpress.com)
If DNA were not coiled within chromosomes, the total DNA in a typical eukaryotic cell would extend thousands of times the length of the cell nucleus. (encyclopedia.com)
In a diploid cell, males have both an X and a Y chromosome , while females have two X chromosomes. (encyclopedia.com)
Chromosomes can be visualized using a microscope just prior to cell division, when the DNA within the nucleus uncoils as it replicates. (encyclopedia.com)
Comparison of RBE values of high-LET α-particles for the induction of DNA-DSBs, chromosome aberrations and cell reproductive death. (wjgnet.com)

Chromosome dosimetry has become established in radiological protection as a useful technique to supplement physical methods in the event of a suspected or confirmed accidental overexposure to external ionising radiation. (ukhsa.gov.uk)

Ring Chromosomes" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (umassmed.edu)

Rearrangements of chromosome 3q26.2 have a significant negative impact on patients with chronic myeloid leukaemia, suggests research published in Blood . (news-medical.net)

After adjustment by age, gender, ethnicity, family size, and pack-years, there was a 16.63-fold significantly elevated odds ratio (OR) for lung cancer associated with chromosome 9 aberrations. (nih.gov)

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Browsing by Subject Chromosome Aberrations — Browsing by Subject "Chromosome Aberrations" (apps.who.int:80)

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Browsing EMRO Journal Articles (‎EMHJ)‎ by Subject Chromosome Aberrations — Browsing EMRO Journal Articles (‎EMHJ)‎ by Subject "Chromosome Aberrations" (apps.who.int:80)

A diagnostic clinical genetic study of craniofacial dysmorphism (apps.who.int)

Skeletal Dysplasia Clinical Presentation: History, Physical, Causes (emedicine.medscape.com)

National Cancer Institute (NCI) | National Institutes of Health (NIH) (nih.gov)

Profile of major congenital malformations in neonates in Al-Jahra region of Kuwait (apps.who.int:80)

Anatomy71

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Diseases35

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Classification of human colorectal adenocarcinoma cell lines. (1/6775)

Assaying potential carcinogens with Drosophila. (2/6775)

Superimposed histologic and genetic mapping of chromosome 9 in progression of human urinary bladder neoplasia: implications for a genetic model of multistep urothelial carcinogenesis and early detection of urinary bladder cancer. (3/6775)

Comparative molecular genetic profiles of anaplastic astrocytomas/glioblastomas multiforme and their subsequent recurrences. (4/6775)

Specific chromosomal aberrations and amplification of the AIB1 nuclear receptor coactivator gene in pancreatic carcinomas. (5/6775)

Conserved mechanism of PLAG1 activation in salivary gland tumors with and without chromosome 8q12 abnormalities: identification of SII as a new fusion partner gene. (6/6775)

Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18. (7/6775)

Structure and inheritance of some heterozygous Robertsonian translocation in man. (8/6775)

Chromosome Aberrations

Chromosomes

Chromosome Mapping

Karyotyping

Chromosome Banding

Sister Chromatid Exchange

Sex Chromosome Aberrations

In Situ Hybridization, Fluorescence

Chromosomes, Human

Chromosomes, Human, Pair 1

X Chromosome

Chromosome Disorders

Micronucleus Tests

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Chromosome Painting

Chromosomes, Human, Pair 11

Chromosomes, Human, Pair 7

Sex Chromosomes

Mutagens

Nuclear Warfare

Corneal Wavefront Aberration

Chromosome Deletion

Cytogenetics

Translocation, Genetic

Cytogenetic Analysis

Aneuploidy

Chromosomes, Human, Pair 13

Americium

Lymphocytes

Chromosomes, Human, Pair 17

Chromosome Segregation

Chromosome Breakage

Chromosomes, Bacterial

Chromosomes, Human, Pair 4

Radiation Genetics

Chromosomes, Human, Pair 6

Triethylenemelamine

Chromosomes, Human, Pair 9

Metaphase

Chromosomes, Human, Pair 21

Linear Energy Transfer

Micronuclei, Chromosome-Defective

Chromosomes, Human, Pair 18

Chromosomes, Plant

Chromosomes, Human, 6-12 and X

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Chromosomes, Human, Pair 16

Chromosomes, Human, Pair 2

Chromosomes, Human, Pair 8

Chromosomes, Human, Pair 22

Chromosomes, Mammalian

Chromosome Pairing

Chromosomes, Human, Pair 10

Chromosomes, Human, Pair 19

Chromosomes, Human, Pair 12

Chromosomes, Artificial, Bacterial

Trisomy

Chromosomes, Human, Pair 5

Chromosomes, Human, Y

DNA Damage

Chromosomal Instability

Chromosomes, Human, 1-3

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Chromosomes, Human, Pair 14

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Chromosomes, Human, Pair 15

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Chromosomes, Human, 16-18

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