CASE REPORTSTrisomy 10p with clinical features of facio-auriculo-vertebral spectrum: a case reportDabir, Tabib A.; Morrison, Patrick J.Author Information 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: [email protected] Received 16 May 2005 Accepted 19 September 2005 Clinical Dysmorphology: January 2006 - Volume 15 - Issue 1 - p 25-27 doi: 10.1097/01.mcd.0000181606.63005.50 Buy Metrics Abstract 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. © 2006 Lippincott Williams & Wilkins, Inc.