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Chromosomal reciprocal translocation of the 4th and 20th chromosome. 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.
A Robertsonian translocation in balanced form results in no excess or deficit of genetic material and causes no health difficulties. In unbalanced forms, Robertsonian translocations cause chromosomal deletions or addition and result in syndromes of multiple malformations, including trisomy 13 (Patau syndrome) and trisomy 21 (Down syndrome). The ...
The disorder arises from the deletion of part of the small arm of chromosome 17p (which includes both the LIS1 and 14-3-3 epsilon genes), leading to partial monosomy. There may be unbalanced translocations (e.g., 17q:17p or 12q:17p), or the presence of a ring chromosome 17.
The balanced translocation figure shows a 14/21 translocation between the long arms of chromosomes 14 and 21, where the other chromosomes are not shown. The individual has two copies of everything on chromosome 14, and two copies of all of the material on the long arm of chromosome 21 (21q). The derivative chromosome 21, which contains only ...
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).
A derivative chromosome contains a balanced translocation, i.e. an even exchange between two chromosomes that results in no increase or decrease in genetic information and generally has no detrimental effects on its carriers. This derivative chromosome contains an exchange, termed t(11;22), or der22 (22) t (11;22), between the q arm of ...
Talkowski et al. [9] compared different approaches to detect balanced chromosome alterations, and showed that modified jumping library in combination with next generation DNA sequencing is an accurate method for mapping chromosomal breakpoints. Two varieties of jumping libraries (short-jump libraries and custom barcoded jumping libraries) were ...
MN1 is a gene found on human chromosome 22, with gene map locus 22q12.3-qter. [5] Its official full name is meningioma (disrupted in balanced translocation) 1 because it is disrupted by a balanced translocation (4;22) in a meningioma .