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: K Devriendt, A Swillen, J P Fryns
• Journal: Clinical genetics (Clin Genet) Vol. 53 Issue 5 Pg. 408-10 (May 1998) ISSN: 0009-9163 [Print] Denmark
• PMID: 9660062 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (genetics)
• Chromosome Deletion
• Chromosomes, Human, Pair 22 (genetics)
• Craniofacial Abnormalities (genetics)
• Ear (abnormalities)
• Eye Abnormalities (genetics)
• Female
• Growth Disorders (genetics)
• Heart Defects, Congenital (genetics)
• Humans
• In Situ Hybridization, Fluorescence
• Infant
• Karyotyping