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Trisomy 10p with clinical features of facio-auriculo-vertebral spectrum: a case report

Dabir, Tabib A.; Morrison, Patrick J.

doi: 10.1097/01.mcd.0000181606.63005.50
CASE REPORTS
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We report a male child born with complete absence of his external ear, hemifacial microsomia of the right side, high arched palate, a down-turned upper lip and slightly up-slanting palpebral fissures. The features were suggestive of facio-auriculo-vertebral spectrum. Investigations showed a tandem duplication of the short arm of one chromosome 10 with apparent breakpoints at p14 and p15. This case extends the list of chromosomal abnormalities associated with the facio-auriculo-vertebral phenotype and also adds useful clinical information to possible trisomy 10p phenotypes.

Clinical Genetics department, Belfast City Hospital, Belfast

Correspondence and requests for reprints to T. Dabir, Clinical Genetics department, Belfast City Hospital, Belfast BT 9 7AB, UK

Tel: +44 289 0329241; fax: +44 289 0236911;

e-mail: Tabib.Dabir@bch.n-i.nhs.uk

Received 16 May 2005 Accepted 19 September 2005

© 2006 Lippincott Williams & Wilkins, Inc.