Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: A unique double rearrangement
Version of Record online: 24 JUL 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 8, pages 1992–1998, August 2013
How to Cite
2013. Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: A unique double rearrangement. Am J Med Genet Part A. 161A:1992–1998., , , .
- Issue online: 24 JUL 2013
- Version of Record online: 24 JUL 2013
- Manuscript Accepted: 3 FEB 2013
- Manuscript Received: 19 SEP 2012
- distal 22q deletion;
- cat eye;
- hemifacial microsomia;
An array-CGH on 19-year-old male showed a proximal 1.11 Mb duplication and a distal 1.7 Mb deletion of 22q11.2 regions flanking the Velocardiofacial/DiGeorge syndrome region that remained intact. FISH analyses revealed both abnormalities to be on the same homolog 22. This double rearrangement lead to the co-existence of two syndromes: Cat eye and distal 22q11.2 microdeletion syndromes with a rare associated phenotype of oculo-auriculo-vertebral spectrum (OAVS). A review of the literature indicates that this is the second report of a proximal duplication and the fifth report of a distal deletion and OAVS suggestive of a possible OAVS candidate gene in this region. © 2013 Wiley Periodicals, Inc.