Microdeletions

Abstract

Microdeletions involving contiguous genes some of which have also unmasked novel mutational mechanisms have been found in association with specific clinical syndromes ( The Microdeletion Syndromes ). Recently, the use of genome‐wide dosage‐sensitive techniques have identified multiple deleted (and duplicated) genomic segments in patients with abnormal phenotypes as well as in clinically normal controls, thereby providing further intriguing insights into the distribution and significance of pathogenic and nonpathogenic imbalances in the human genome ( see Polymorphic inversions, deletions, and duplications ).