Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: A unique double rearrangement

Authors


Erin E. Torti, M.S., CGC, Division of Medical Genetics, Department of Pediatrics, Saint Louis University, 1465 South Grand Boulevard, Glennon Hall Room 3733, St. Louis, MO 63104.

Erin E. Torti, M.S., CGC, Division of Medical Genetics, Department of Pediatrics, Saint Louis University, 1465 South Grand Boulevard, Glennon Hall Room 3733, St. Louis, MO 63104.

E-mail: etorti@slu.edu

Abstract

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.

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