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Deletion in chromosome region 22q11 in a child with CHARGE association
K Devriendt1, A Swillen, J P Fryns
1Center for Human Genetics, University Hospital Leuven, Belgium. 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 DO832. 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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