Document Detail


Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions.
MedLine Citation:
PMID:  12673657     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
CHARGE syndrome is a distinctive subgroup within the more heterogeneous group of patients with CHARGE association. While significant progress has been made in the clinical delineation of this syndrome, the molecular basis of the disorder remains unknown. Based on the complex phenotype, some overlap with DiGeorge/velocardiofacial syndrome (DGS/VCFS), and its estimated population incidence, we hypothesized that CHARGE syndrome could be caused by an unidentified genomic microdeletion. In order to address this hypothesis, we carried out a genome-wide screen for loss of expected heterozygosity using 811 microsatellite markers in ten CHARGE syndrome subjects and their unaffected parents. Eight markers gave results suggestive of failure to inherit one parental allele. These loci were tested with fluorescence in situ hybridization (FISH), but none showed evidence of deletion. This screen sets upper limits on the length of a CHARGE-related microdeletion, should that be the genetic mechanism underlying the phenotype.
Authors:
Seema R Lalani; David W Stockton; Carlos Bacino; Laura M Molinari; Nancy L Glass; Susan D Fernbach; Jeffrey A Towbin; William J Craigen; John M Graham; Margaret A Hefner; Angela E Lin; Kim L McBride; Sandra L Davenport; John W Belmont
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  118A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2003 Apr 
Date Detail:
Created Date:  2003-04-03     Completed Date:  2004-01-06     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  260-6     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Affiliation:
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
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MeSH Terms
Descriptor/Qualifier:
Alleles
Blotting, Southern
Chromosome Mapping
DNA, Complementary / metabolism
Gene Deletion*
Genetic Markers
Genotype
Heterozygote
Humans
In Situ Hybridization, Fluorescence
Loss of Heterozygosity
Microsatellite Repeats
Phenotype
Polymorphism, Genetic
Syndrome
Grant Support
ID/Acronym/Agency:
HD22657-11/HD/NICHD NIH HHS; HD39056/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
0/DNA, Complementary; 0/Genetic Markers

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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