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In genetics, chromosome translocation is a phenomenon that results in unusual rearrangement of chromosomes. This includes balanced and unbalanced translocation, with two main types: reciprocal, and Robertsonian translocation. Reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes. Two ...
In humans, when a Robertsonian translocation joins the long arm of chromosome 21 with the long arm of chromosomes 14 or 15, the heterozygous carrier is phenotypically normal because there are two copies of all major chromosome arms and hence two copies of all essential genes. [9]
The chromosomal defect in the Philadelphia chromosome is a reciprocal translocation, in which parts of two chromosomes, 9 and 22, swap places. The result is that a fusion gene is created by juxtaposing the ABL1 gene on chromosome 9 (region q34) to a part of the BCR (breakpoint cluster region) gene on chromosome 22 (region q11).
For example, 46,XY,der(4)t(4;8)(p16;q22)t(4;9)(q31;q31) would refer to a derivative chromosome 4 which is the result of a translocation between the short arm of chromosome 4 at region 1, band 6 and the long arm of chromosome 8 at region 2, band 2, and a translocation between the long arm of chromosome 4 at region 3, band 1 and the long arm of ...
An example of translocation between two chromosomes. The SRY gene, normally found on the Y chromosome, plays an important role in sex determination by initiating testicular development. In about 80 percent of XX males, the SRY gene is present on one of the X chromosomes. [16] [25] The condition results from an abnormal exchange of genetic ...
In genetics, a fusion gene is a hybrid gene formed from two previously independent genes. It can occur as a result of translocation , interstitial deletion , or chromosomal inversion . Fusion genes have been found to be prevalent in all main types of human neoplasia . [ 1 ]
The human ETV6 gene is located at position "13.2" on the short (i.e. "p") arm of chromosome 12, i.e. its notated position is 12p13.2. The gene has 8 exons and two start codons, one located at exon 1 at the start of the gene and an alternative located upstream of exon 3.
Maternally-derived chromosome rearrangement p: Short arm of a chromosome pat: Paternally-derived chromosome rearrangement psu dic: pseudo dicentric – only one centromere in a dicentric chromosome is active q: Long arm of a chromosome r: Ring chromosome t: Translocation: ter: Terminal end of arm (e.g. 2qter refers to the end of the long arm of ...