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Concept
Robertsonian translocation
Summary
Robertsonian translocation (ROB) is a chromosomal abnormality wherein the entire long arms of two of a certain type of a chromosome called an acrocentric chromosome become fused to each other. It is the most common form of chromosomal translocation in humans, affecting 1 out of every 1,000 babies born. It does not usually cause direct health difficulties, however such persons are almost always infertile because their chromosome count does not match that of most humans. In rare cases this genetic disorders results in Down syndrome and Patau syndrome. Robertsonian translocations result in a reduction in the number of chromosomes. A Robertsonian evolutionary fusion, which may have occurred in the common ancestor of humans and other great apes, is the reason humans have 46 chromosomes while all other primates have 48. Detailed DNA studies of chimpanzee, orangutan, gorilla and bonobo apes has determined that where human Chromosome 2 is present in our DNA in all four great apes this is split into two separate chromosomes typically numbered 2a and 2b. Similarly, the fact that horses have 64 chromosomes and donkeys 62, and that they can still have common, albeit usually infertile, offspring, may be due to a Robertsonian evolutionary fusion at some point in the descent of today's donkeys from their common ancestor.
Humans have 5 autosomal chromosomes with arms that are particularly discordant in length, known as acrocentric chromosomes. These are 13, 14, 15, 21 and 22. When these chromosomes break at their centromeres, the two resulting long arms may fuse. The result is a single, large chromosome with a metacentric centromere. This form of rearrangement is a Robertsonian translocation.
This type of translocation may involve homologous (paired) or non-homologous chromosomes. Owing to the acrocentric nature of the chromosomes involved, the long arms of these chromosomes contain the majority of genetic material contained on the original chromosomes.
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