Partial proximal 10q trisomy: a new case associated with biliary atresia.
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.
Lysy
Philippe A
PA
Gastroenterology and Hepatology Unit, HPED Department, Université Catholique de Louvain & Cliniques Saint Luc, Brussels, Belgium.
Sibille
Catherine
C
Gillerot
Yves
Y
Smets
Françoise
F
Sokal
Etienne M
EM
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