title: Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: a unique double rearrangement.
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.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, MO 63104, USA. etorti@slu.edu
authors.forename: Erin E
authors.initials: EE
authors.lastname: Torti
authors.forename: Stephen R
authors.initials: SR
authors.lastname: Braddock
authors.forename: Kristen
authors.initials: K
authors.lastname: Bernreuter
authors.forename: Jacqueline R
authors.initials: JR
authors.lastname: Batanian
mesh_terms: D058165:22q11 Deletion Syndrome / Q000150:complications / Q000235:genetics*; D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D000782:Aneuploidy; D025063:Chromosome Disorders / Q000150:complications / Q000235:genetics*; D058674:Chromosome Duplication; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D005124:Eye Abnormalities; D005260:Female; D015321:Gene Rearrangement; D006053:Goldenhar Syndrome / Q000150:complications / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D010641:Phenotype; D055815:Young Adult
keywords: cat eye; distal 22q deletion; facio-auriculo-vertebral; hemifacial microsomia; oculo-auriculo-vertebral