Microdeletion and Microduplication Syndromes

Overview

Journal J Histochem Cytochem

Publisher Sage Publications

Specialty Biochemistry

Date 2012 Mar 8

PMID 22396478

Citations 71

Authors

Anja Weise

Kristin Mrasek

Elisabeth Klein

Milene Mulatinho

Juan C Llerena Jr

David Hardekopf

Sona Pekova

Samarth Bhatt

Nadezda Kosyakova

Thomas Liehr

Affiliations

Soon will be listed here.

Abstract

The widespread use of whole genome analysis based on array comparative genomic hybridization in diagnostics and research has led to a continuously growing number of microdeletion and microduplication syndromes (MMSs) connected to certain phenotypes. These MMSs also include increasing instances in which the critical region can be reciprocally deleted or duplicated. This review catalogues the currently known MMSs and the corresponding critical regions including phenotypic consequences. Besides the pathogenic pathways leading to such rearrangements, the different detection methods and their limitations are discussed. Finally, the databases available for distinguishing between reported benign or pathogenic copy number alterations are highlighted. Overall, a review of MMSs that previously were also denoted "genomic disorders" or "contiguous gene syndromes" is given.

Citing Articles

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