Portohepatic shunt in a Down syndrome patient with an interchange trisomy 47,XY,-2,+der(2),+der(21)t(2;21)(p13;q22.1)mat.
A rare vascular portohepatic anomaly was identified in a Down syndrome patient with a 47,XY,-2,+der(2),+der(21)t(2;21)(p13;q22.1) mat chromosomal complement. This vascular defect involves a direct communication between the right portal vein and the inferior vena cava (IVC). We discuss the possibility that this vascular defect is a rare manifestation in Down syndrome. Alternatively, the existence of these 2 rare events in the same patient raises the possibility that they are causally related.
Kieran
M W
MW
Department of Pediatrics, Montreal Children's Hospital, Quebec, Canada.
Vekemans
M
M
Robb
L J
LJ
Sinsky
A
A
Outerbridge
E W
EW
Der Kaloustian
V M
VM
D002889:Chromosomes, Human, Pair 2; D002891:Chromosomes, Human, Pair 21; D004314:Down Syndrome / Q000235:genetics*; D004373:Ductus Arteriosus / Q000002:abnormalities; D004452:Echocardiography; D005402:Fistula / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008099:Liver / Q000098:blood supply / Q000000981:diagnostic imaging; D008297:Male; D011169:Portal Vein / Q000002:abnormalities*; D014178:Translocation, Genetic; D014314:Trisomy; D014682:Vena Cava, Inferior / Q000002:abnormalities*