Deletion in chromosome region 22q11 in a child with CHARGE association

Authors


2 Center for Human Genetics, Herestraat 49, B-3000 Leuven, Belgium. Fax: + 32 16 346051. e-mail: koen.devriendt@med.kuleuven.ac.be

Abstract

We present a female child with features of the CHARGE association including iris coloboma, large ventricular septum defect (VSD), external ear abnormalities, severe growth retardation and moderate mental delay. A submicroscopic deletion in chromsome 22q11 was detected by means of fluorescence in situ hybridization (FISH) using probe D0832. The clinical features in this child compromise characteristics of both the velo-cardio-facial syndrome (VCFS) and the cat-eye syndrome. This may suggest the presence of a more complex rearrangement of 22q, with a deletion-duplication.

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