Document Detail

Challenges in clinical interpretation of microduplications detected by array CGH analysis.
MedLine Citation:
PMID:  20425815     Owner:  NLM     Status:  MEDLINE    
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.
Pawel Stankiewicz; Amber N Pursley; Sau Wai Cheung
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  152A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2010 May 
Date Detail:
Created Date:  2010-04-28     Completed Date:  2010-08-12     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1089-100     Citation Subset:  IM    
Copyright Information:
Copyright 2010 Wiley-Liss, Inc.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
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MeSH Terms
Chromosome Aberrations*
Comparative Genomic Hybridization / methods*
Exons / genetics
Gene Duplication*
Regulatory Sequences, Nucleic Acid / genetics

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