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- Title
Partial proximal 10q trisomy: a new case associated with biliary atresia.
- Authors
Lysy, Philippe A.; Sibille, Catherine; Gillerot, Yves; Smets, Françoise; Sokal, Etienne M.
- Abstract
Herein we describe a unique case of partial proximal 10q trisomy presenting biliary atresia, anal anteposition and cardiac malformation. The 10q duplication was confirmed by G banding on prophase chromosomes. A review of the literature confirmed that the patient displayed characteristic dysmorphic features of the recently defined partial proximal trisomy 10q syndrome and emphasized the interindividual variability of visceral malformations.
- Subjects
BILIARY atresia; TRISOMY; HEART abnormalities; MEDICAL literature
- Publication
Hereditas, 2007, Vol 144, Issue 5, p191
- ISSN
0018-0661
- Publication type
Article
- DOI
10.1111/j.2007.0018-0661.02032.x