Chromosomal phenotypes and submicroscopic abnormalities

Abstract

The finding, during the last decade, that several common, clinically delineated syndromes are caused by submicroscopic deletions or, more rarely, by duplications, has provided a powerful tool in the annotation of the human genome. Since most microdeletion/microduplication syndromes are defined by a common deleted/duplicated region, abnormal dosage of genes… (More)
DOI: 10.1186/1479-7364-1-2-126

Topics

3 Figures and Tables

Slides referencing similar topics