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Definition

A type of translocation that occurs on acentric chromosomes where the long arm of one chromosome fuses with another.

Use in clinical context

Robertsonian translocations involve the exchange of the short arm of one acrocentric chromosome with the long arm of a different acrocentric chromosome. This typically does not result in an altered phenotype as the individual usually still has copies of all genes, but it can have phenotypic consequences for their offspring who may lack or have additional copies of genes.

Last updated on 26th May, 2020