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A patient with 22q11.2 deletion and Opitz syndrome‐like phenotype has the same deletion as velocardiofacial patients
Author(s) -
Erickson Robert P.,
de Ståhl Teresita Díaz,
Bruder Carl E.G.,
Dumanski Jan P.
Publication year - 2007
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.32025
Subject(s) - digeorge syndrome , locus (genetics) , phenotype , comparative genomic hybridization , genetics , biology , gene , chromosome
Five patients were previously described with the Opitz (GBBB) syndrome (OMIM 145410) phenotype and 22q11.2 deletion determined by FISH but the precise limits of their deletions have not been determined. Since one locus for Opitz syndrome maps to 22q11.2 and chromosomal arrangements are frequently complex and could inactivate such a locus, we performed high‐resolution array‐based comparative genomic hybridization (CGH) on a new Opitz syndrome‐like phenotype patient with a 22q11.2 deletion. He shares the same deletion as patients with velocardiofacial and DiGeorge syndrome. © 2007 Wiley‐Liss, Inc.