Robertsonian translocation

Robertsonian translocation (pronunciation: /ˌrɒbərtˈsoʊniən trænsloʊˈkeɪʃən/) is a specific kind of chromosomal abnormality that involves the fusion of two acrocentric chromosomes at their short arms. The condition is named after the American biologist W.R.B. Robertson, who first described this type of translocation in 1916.

Etymology

The term "Robertsonian translocation" is derived from the name of the scientist who first identified this chromosomal abnormality. The term "translocation" comes from the Latin words "trans" (across) and "locus" (place), referring to the movement of a segment from one chromosome to another.

Description

In a Robertsonian translocation, the long arms of two acrocentric chromosomes fuse at the centromere to form a single chromosome. This results in a carrier having 45 chromosomes instead of the usual 46, although the total amount of genetic material remains the same. The five acrocentric chromosome pairs (13, 14, 15, 21, and 22) are most often involved in this type of translocation.

Clinical significance

Robertsonian translocation is significant in medical genetics because it can lead to genetic disorders such as Down syndrome and Patau syndrome. This occurs when an individual inherits an extra copy of the long arm of chromosome 21 or 13, respectively, due to the translocation.

Related terms

• Chromosome
• Acrocentric chromosome
• Centromere
• Down syndrome
• Patau syndrome

See also

• Genetic disorders
• Chromosomal abnormalities
• Medical genetics

External links

• Medical encyclopedia article on Robertsonian translocation
• Wikipedia's article - Robertsonian translocation

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