ITEM METADATA RECORD
Title: Deletion in chromosome region 22q11 in a child with CHARGE association
Authors: Devriendt, Koenraad ×
Swillen, Ann
Fryns, Jean-Pierre #
Issue Date: Sep-1998
Series Title: Clinical Genetics vol:53 issue:5 pages:408-10
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.
ISSN: 0009-9163
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Research Group for Adapted Physical Activity and Psychomotor Rehabilitation
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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