title: Goldenhar sequence and mosaic trisomy 22.
abstract: We describe a term infant with facioauriculo-vertebral "dysplasia" (Goldenhar sequence), hypertelorism, and mosaic trisomy 22: peripheral blood, 46, XY/47, XY, + 22 (72%/28%); skin fibroblasts, 47, XY, + 22 (100%). This is the second report of Goldenhar anomaly with epibulbar dermoids in a liveborn infant with aneuploidy. Hypertelorism is rare in Goldenhar sequence, but typical of trisomy 22. We recommend chromosome analysis in all patients with Goldenhar sequence. Those with hypertelorism may be more likely to have aneuploidy as well.
authors.affiliation: Hayward Genetics Center, Department of Pediatrics, Tulane University School of Medicine, New Orleans, LA 70112, USA.
authors.forename: G
authors.initials: G
authors.lastname: Pridjian
authors.forename: W L
authors.initials: WL
authors.lastname: Gill
authors.forename: E
authors.initials: E
authors.lastname: Shapira
mesh_terms: D002892:Chromosomes, Human, Pair 22; D006053:Goldenhar Syndrome / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014314:Trisomy