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

• Published in: American journal of medical genetics. Part A Vol. 161A; no. 8; pp. 1992 - 1998
• Main Authors: Torti, Erin E., Braddock, Stephen R., Bernreuter, Kristen, Batanian, Jacqueline R.
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01-08-2013; Wiley Subscription Services, Inc
• Subjects: 22q11 Deletion Syndrome - complications; 22q11 Deletion Syndrome - genetics; Abnormalities, Multiple; Adolescent; Adult; Aneuploidy; cat eye; Chromosome Disorders - complications; Chromosome Disorders - genetics; Chromosome Duplication; Chromosomes, Human, Pair 22 - genetics; Comparative Genomic Hybridization; distal 22q deletion; Eye Abnormalities; facio-auriculo-vertebral; Female; Gene Rearrangement; Goldenhar Syndrome - complications; Goldenhar Syndrome - genetics; hemifacial microsomia; Humans; In Situ Hybridization, Fluorescence; Male; oculo-auriculo-vertebral; Phenotype; Young Adult; oculo-auriculo-vertebral; hemifacial microsomia; facio-auriculo-vertebral; cat eye; distal 22q deletion
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.35918

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.