Goldenhar sequence and mosaic trisomy 22

American Journal of Medical Genetics
G PridjianE Shapira

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.

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Citations

Jul 15, 1998·International Journal of Pediatric Otorhinolaryngology·B Hoch, W Hochban
Jan 17, 2004·Journal of the American Academy of Dermatology·Tara D Miller, Denise Metry
Dec 1, 2005·Clinical Dysmorphology·Tabib A Dabir, Patrick J Morrison
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May 13, 2014·PloS One·Dina ZielinskiYaniv Erlich
Jul 31, 2013·American Journal of Medical Genetics. Part a·Erin E TortiJacqueline R Batanian
Mar 27, 2013·American Journal of Medical Genetics. Part a·Dalal AbdelgadirChumei Li
Jul 17, 2010·American Journal of Medical Genetics. Part a·Caroline RooryckBenoît Arveiler
May 17, 2007·American Journal of Medical Genetics. Part a·Kerstin StrömlandGösta Granström
Oct 17, 2007·American Journal of Medical Genetics. Part a·Jia-Chi WangAneal Khan
Sep 25, 2019·Indian Journal of Ophthalmology·Deepika DhingraSurinder S Pandav

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