Document Detail


Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects.
MedLine Citation:
PMID:  20138633     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVES: To investigate different aspects of the introduction of array comparative genomic hybridization (aCGH) in clinical practice. STUDY DESIGN: A total 150 patients with a syndromic congenital heart defect (CHD) of unknown cause were analyzed with aCGH at 1-Mb resolution. Twenty-nine of these patients, with normal results on 1Mb aCGH, underwent re-analysis with 244-K oligo-microarray. With a logistic regression model, we assessed the predictive value of patient characteristics for causal imbalance detection. On the basis of our earlier experience and the literature, we constructed an algorithm to evaluate the causality of copy number variants. RESULTS: With 1-Mb aCGH, we detected 43 structural variants not listed as clinically neutral polymorphisms, 26 of which were considered to be causal. A systematic comparison of the clinical features of these 26 patients to the remaining 124 patients revealed dysmorphism as the only feature with a significant predictive value for reaching a diagnosis with 1-Mb aCGH. With higher resolution analysis in 29 patients, 75 variants not listed as clinically neutral polymorphisms were detected, 2 of which were considered to be causal. CONCLUSIONS: Molecular karyotyping yields an etiological diagnosis in at least 18% of patients with a syndromic CHD. Higher resolution evaluation results in an increasing number of variants of unknown significance.
Authors:
Jeroen Breckpot; Bernard Thienpont; Hilde Peeters; Thomy de Ravel; Amihood Singer; Maissa Rayyan; Karel Allegaert; Christine Vanhole; Benedicte Eyskens; Joris Robert Vermeesch; Marc Gewillig; Koenraad Devriendt
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-02-06
Journal Detail:
Title:  The Journal of pediatrics     Volume:  156     ISSN:  1097-6833     ISO Abbreviation:  J. Pediatr.     Publication Date:  2010 May 
Date Detail:
Created Date:  2010-04-13     Completed Date:  2010-05-03     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  810-7, 817.e1-817.e4     Citation Subset:  AIM; IM    
Affiliation:
Center of Human Genetics, University Hospitals Leuven, Leuven, Belgium.
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MeSH Terms
Descriptor/Qualifier:
Comparative Genomic Hybridization*
Heart Defects, Congenital / diagnosis,  genetics*
Humans
Karyotyping
Oligonucleotide Array Sequence Analysis
Syndrome

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