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

Am J Med Genet A. 2013 Aug;161A(8):1992-8. doi: 10.1002/ajmg.a.35918.

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.

Keywords: cat eye; distal 22q deletion; facio-auriculo-vertebral; hemifacial microsomia; oculo-auriculo-vertebral.

Publication types

  • Case Reports

MeSH terms

  • 22q11 Deletion Syndrome / complications
  • 22q11 Deletion Syndrome / genetics*
  • Abnormalities, Multiple
  • Adolescent
  • Adult
  • Aneuploidy
  • Chromosome Disorders / complications
  • Chromosome Disorders / genetics*
  • Chromosome Duplication*
  • Chromosomes, Human, Pair 22 / genetics
  • Comparative Genomic Hybridization
  • Eye Abnormalities
  • Female
  • Gene Rearrangement*
  • Goldenhar Syndrome / complications
  • Goldenhar Syndrome / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Phenotype
  • Young Adult

Supplementary concepts

  • Schmid-Fraccaro syndrome