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Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions
Author(s) -
Lalani Seema R.,
Stockton David W.,
Bacino Carlos,
Molinari Laura M.,
Glass Nancy L.,
Fernbach Susan D.,
Towbin Jeffrey A.,
Craigen William J.,
Graham John M.,
Hefner Margaret A.,
Lin Angela E.,
McBride Kim L.,
Davenport Sandra L.,
Belmont John W.
Publication year - 2003
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.20002
Subject(s) - charge syndrome , genetics , allele , loss of heterozygosity , biology , phenotype , microsatellite , population , fish <actinopterygii> , etiology , comparative genomic hybridization , genome , gene , medicine , pathology , environmental health , fishery
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. © 2003 Wiley‐Liss, Inc.