<< Back to glossary index

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 swapping of the short arm of one acrocentric chromosome with the long arm of a different acrocentric chromosome. This may not result in an altered phenotype as the individual 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 31st May, 2019