title: Deletion in chromosome region 22q11 in a child with CHARGE association.
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.
authors.affiliation: Center for Human Genetics, University Hospital Leuven, Belgium. koen.devriendt@med.kuleuven.ac.be
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
authors.forename: A
authors.initials: A
authors.lastname: Swillen
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D004423:Ear / Q000002:abnormalities; D005124:Eye Abnormalities / Q000235:genetics; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping