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 babies born.[1] It does not usually cause medical problems, though some people may produce gametes with an incorrect number of chromosomes, resulting in a risk of miscarriage. In rare cases this translocation results in Down syndrome and Patau syndrome.[2] 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.[3][4] Similarly, the fact that horses have 64 chromosomes and donkeys 62, and that they can still have common, albeit usually infertile, offspring,[5] may be due to a Robertsonian evolutionary fusion at some point in the descent of today's donkeys from their common ancestor.[6]
^E. Therman, B. Susman and C. Denniston. The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations. Annals of Human Genetics 1989;53:49-65.
^"Unique: Rare Chromosome Disorder Support Group" (PDF). Archived from the original (PDF) on 2019-02-18. Retrieved 2019-02-17.
^Chiatante G, Giannuzzi G, Calabrese FM, Eichler EE, Ventura M (1 July 2017). "Centromere Destiny in Dicentric Chromosomes: New Insights from the Evolution of Human Chromosome 2 Ancestral Centromeric Region". Molecular Biology and Evolution. 34 (7): 1669–1681. doi:10.1093/molbev/msx108. PMC 5722054. PMID 28333343.
^Pratas D, Silva RM, Pinho AJ, Ferreira PJ (18 May 2015). "An alignment-free method to find and visualise rearrangements between pairs of DNA sequences". Scientific Reports. 5 (1): 1203. Bibcode:2015NatSR...510203P. doi:10.1038/srep10203. PMC 4434998. PMID 25984837.
^More details under Mule and Hinny.
^Cite error: The named reference equus was invoked but never defined (see the help page).
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