Microdeletion syndromes

Abstract

Chromosome rearrangements that result in interstitial or terminal deletions or unbalanced translocations lead to disturbances in gene dosage. The rearrangements may be relatively large, one to several million bases in length, and involve a large number of genes. Disorders in which loss of multiple genes at closely linked loci result in diverse phenotypic effects are known as microdeletion or contiguous gene syndromes.