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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. The short arms of the chromosomes (shown on right) are often lost . Robertsonian translocation (ROB) is a chromosomal abnormality where the entire long arms of two different chromosomes become fused to each other. It is the most common form of chromosomal translocation in humans, affecting 1 out of every 1,000 ...
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 ...
Balanced chromosomal rearrangements can have a significant contribution to diseases, as demonstrated by the studies of leukemia. [14] However, many of them are undetected by chromosomal microarray. Karyotyping and FISH can identify balanced translocations and inversions but are labor-intensive and provide low resolution (small genomic changes ...
People with Emanuel syndrome typically inherit the der(22) chromosome from an unaffected parent. The parent carries a chromosomal rearrangement between chromosomes 11 and 22 called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems.
Figure 1: The exchange of chromosomal segments between chromosomes 4 to 20. Since no segments are lost, this is a balanced translocation. The successful implantation of an embryo not only relies on a receptive uterine environment in the mother but also on the quality of the embryo itself.
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).
It may be a random event during the formation of reproductive cells or in early fetal development or due to familial chromosomal rearrangement called chromosomal translocation. In less than 20% of cases an unaffected parent carries a particular chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or ...