title: Partial proximal 10q trisomy: a new case associated with biliary atresia.
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.
authors.affiliation: Gastroenterology and Hepatology Unit, HPED Department, Université Catholique de Louvain & Cliniques Saint Luc, Brussels, Belgium.
authors.forename: Philippe A
authors.initials: PA
authors.lastname: Lysy
authors.forename: Catherine
authors.initials: C
authors.lastname: Sibille
authors.forename: Yves
authors.initials: Y
authors.lastname: Gillerot
authors.forename: Françoise
authors.initials: F
authors.lastname: Smets
authors.forename: Etienne M
authors.initials: EM
authors.lastname: Sokal
mesh_terms: D001017:Aortic Coarctation / Q000601:surgery; D001656:Biliary Atresia / Q000175:diagnosis / Q000235:genetics*; D002871:Chromosome Banding; D002879:Chromosomes, Human, Pair 10; D006801:Humans; D007231:Infant, Newborn; D014314:Trisomy