chromosomal translocation slideshare

This review gives an account of chromosomal aberrations in cancer cells. 3 types of down syndrome 1. It is of two kinds - heterozygous translocation and homozygous translocation. Your librarys users will have access to 200 subject-appropriate full-text periodicals. Changes in chromosome number occur during sperm or egg formation or in the early development of the embryo. This is a male karyotype showing a balanced translocation between the X chromosome and chromosome 9. The sequence of gene loci in the chromosome also maintains an […] Presentation Summary : Chromosomal mutations involve changes in the number or structure of chromosomes. Chromosomal aberrations are of 4 major types: ADVERTISEMENTS: (a) Deletion (b) duplication (c) inversion and (d) translocation. Down syndrome is most commonly the result of Aneuploidy. Robertsonian (unbalanced) Translocations! Cases with none of these changes were classified as “other.” Karyotype complexity was defined by the number of unrelated abnormalities present from 1 to 5 or greater. General overviews are provided … A chromosomal translocation occurs when a segment of one chromosome becomes attached to another.! The Chromosomal syndromes Are the result of anomalous genetic mutations that occur within the chromosomes during the formation of the gametes or in the first divisions of the zygote.. There are two main types of medically important translocations: 1. Philadelphia chromosome-negative chronic myelogenous leukemia without breakpoint cluster region rearrangement: a chronic myeloid leukemia with a distinct clinical course. Mutation Res 106: 175–190 Google Scholar Östergren G, Östergren K (1983) An X-ray induced Robertsonian fission in Tradescantia that gave rise to transmissible dicentric chromosomes. The RecBCD enzyme is, however, regulated by a cis -acting DNA sequence known as Chi (crossover hotspot instigator) that … A well-known oncogene involved in chronic myelogenous leukemia is the Bcr-Abl gene (the Philadelphia chromosome) caused by a translocation of segments of chromosome 9 and chromosome 22. (A) Deletion or Deficiency: Deletion or deficiency as the name suggests there is a loss of segment of chromosome. In normal course of cell-division cycle, the chromosomes duplicate and segregate in an orderly manner. FOXP2-related speech and language disorder. The following is a list of 14 types of chromosomal syndromes and their causes , … A “chromosomal translocation” is the term used to describe when two parts of the puzzle thread join in a way that doesn’t fit. Subject :Biochemistry Course :2nd Year / 3rd Semester Keyword : SWAYAMPRABHA. Human kidney cancer has also been linked to an inherited chromosomal translocation in which a piece of chromosome 3 is hooked onto chromosome 8. 0. However, some cases (2-3%) are caused by a translocation during meiosis that transfers most of chromosome 21 onto chromosome 14. When the protein produced by this gene, a tyrosine kinase, is continually produced it results in a continuous signal for the cell to grow and divide. Patients with mongolism who have a chromosomal comple­ment of 46 and possess a translocation chromo­some are relatively common. Chromosome painting refers to the hybridization of fluorescently labelled chromosome-specific, composite probes to cytological preparations. Other articles where Translocation is discussed: chromosomal disorder: …be transferred to another (translocation), which has no effect on the person in which it occurs but generally causes a deletion or duplication syndrome in his or her children. Genetic recombination (also known as genetic reshuffling) is the exchange of genetic material between different organisms which leads to production of offspring with combinations of traits that differ from those found in either parent. The breakpoints for this translocation are Xp22.3 and 9q22, respectively. It is a kind of a chromosomal abnormality in which the interchange of the chromosomal segments occurs. Genetics plays a role, to a greater or lesser extent, in all diseases. (Fig. Change in Chromosome Number. 43.2). It might be outdated or ideologically biased. In these people, the X chromosome (in either sex) has an abnormally long, fragile arm. In epidemiological studies, it has been shown that ∗ Corresponding author. Balanced translocation: no genetic material is lost or duplicated → phenotype is usually normal. Obe G, Johannes C (1987) Chromosomal aberrations induced by the restriction endonucleases Alu I and Bam HI: comparison with X-rays. Kurzrock R(1), Kantarjian HM, Shtalrid M, Gutterman JU, Talpaz M. Author information: (1)Department of Clinical Immunology and Biological Therapy, UT M.D. Chromosomal abnormalities or aberration is a missing , extra or irregular portion of chromosomal DNA . A chromosomal disorder, chromosomal anomaly, chromosomal aberration, or chromosomal mutation is a missing, extra, or irregular portion of chromosomal DNA. Chromosomal translocation: relocation of one chromosome segment onto another (nonhomologous) chromosome. Several different changes affecting chromosome 7 can result in FOXP2-related speech and language disorder.These changes involve a region of the long (q) arm of chromosome 7 containing the FOXP2 gene.FOXP2-related speech and language disorder is an uncommon condition that affects the development of speech and language starting in early childhood. After break the part without centromere is lost. Chromosomal translocations are observed in 50%-70% of the pa-tients with myeloma and over 90% of these translocations involve chromosome 14, which includes the locus at 14q32.IGH 13,16,21 IGH translocation leads to the upregulation of partner gene expres-sion under the control of the enhancer. Downloads. The following article is from The Great Soviet Encyclopedia (1979). The mechanics signify chiefly a rearrangement through loss, gain or reallocation of chromosomal segments. The examination may be necessary also for the families where one of the parents is a carrier of a balanced structural chromosomal rearrangement – translocation, inversion, insertion or any complex rearrangement. When translocation occurs between two non-homologous chromosomes, then it is called reciprocal translocation or illegitimate crossingover. There are two types of chromosomal aberrations: (a) Changes in the number of chromosomes: Aneuploidy and euploidy (b) Changes in structure of chromosome: deficiency (deletion), duplication, inversion and translocation. A chromosome contains thousands of genes.Gene is a specific region of a chromosome or specific DNA fragment which bears a genetic code to synthesize a protein.It has a unique DNA sequence. The translocation is usually a 14:21 translocation (2 per cent of Mongols), or, more rarely, 21:22 translocation (1 per cent of Mongols). Most recurrent transIGH - An inherited disorder of the X chromosome (fragile X syndrome) is the second leading cause of mental retardation. Moreover, this kind of chromosomal abnormality is almost always in respect to chromosome X (the mosaics of other chromosomes tend not to be viable). It also degrades linear double-stranded DNA, protecting the bacteria from phages and extraneous chromosomal DNA. 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