Trisomy 22 and facioauriculovertebral (Goldenhar) sequence

Am J Med Genet. 1993 Apr 1;46(1):68-71. doi: 10.1002/ajmg.1320460111.

Abstract

We report on an infant girl born with complete trisomy 22 and left hemifacial microsomia, ear anomaly, and limbal and epibulbar complex choristoma. Trisomy 22 was confirmed by prometaphase chromosome analysis and in situ hybridization. This patient extends the list of chromosome abnormalities associated with apparent Golenhar sequence and emphasizes the importance of chromosome analysis in the investigation of patients with this condition. A detailed ophthalmopathological investigation is reported.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosomes, Human, Pair 22*
  • Cleft Palate / genetics
  • Ear / abnormalities
  • Eye Abnormalities / genetics
  • Female
  • Fingers / abnormalities
  • Foot Deformities
  • Goldenhar Syndrome / diagnosis
  • Goldenhar Syndrome / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Karyotyping
  • Limb Deformities, Congenital
  • Trisomy*
  • Ulna / abnormalities