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Trisomy 22 and facioauriculovertebral (Goldenhar) sequence

✍ Scribed by Kobrynski, Lisa ;Chitayat, David ;Zahed, Laila ;McGregor, David ;Rochon, Louise ;Brownstein, Seymour ;Vekemans, Michael ;Albert, Darren L.

Book ID: 102703062
Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 513 KB
Volume: 46
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320460111

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✦ Synopsis

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 cmfirmed by prometaphase chromosome analysis and in situ hybridization. This patient extends the list of chromosome abnormalities associated with apparent Goldenhar sequence and emphasizes the importance of chromosome analysis in the investigation of patients with this condition. A detailed ophthalmopathological investigation is reported.

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