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Challenges in clinical interpretation of microduplications detected by array CGH analysis
Author(s) -
Stankiewicz Pawel,
Pursley Amber N.,
Cheung Sau Wai
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33216
Subject(s) - gene duplication , clinical significance , copy number variation , computational biology , biology , medicine , bioinformatics , genetics , genome , gene , pathology
Due to the lack of robust diagnostic methods and limited resolution of conventional microscopy, submicroscopic genomic duplication copy number variants (CNVs) have been long underascertained. The development of array CGH has enabled detection of microduplications with nearly the same sensitivity as microdeletions and thus allowing them to be routinely identified throughout the human genome. However, in contrast to microdeletions, clinical interpretation of microduplications more often presents a diagnostic dilemma, as the functional impact of these genomic alterations is not well understood. Microduplications are especially difficult to interpret when they encompass several genes or a portion of a gene. Determining their significance involves investigative teamwork between both the diagnostic laboratory and the clinician. We present the steps for interpreting the clinical significance of microduplications and representative examples of these challenging cases. © 2010 Wiley‐Liss, Inc.