Am J Med Genet. 1992 Oct 1;44(3):288-92.

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.

Kieran MW, Vekemans M, Robb LJ, Sinsky A, Outerbridge EW, Der Kaloustian VM.

Source

Department of Pediatrics, Montreal Children's Hospital, Quebec, Canada.

Abstract

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.

Comment in

Association between Down syndrome and portohepatic shunt. [Am J Med Genet. 2000]
Association between Down syndrome and portohepatic shunt.Courtens W, Segers V, Johansson A, Avni FE. Am J Med Genet. 2000 Jul 17; 93(2):166-8.

PMID:: 1488975; [PubMed - indexed for MEDLINE]

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Portohepatic shunt in a Down syndrome patient with an interchange trisomy 47,XY,...
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.
Am J Med Genet. 1992 Oct 1 ;44(3):288-92.

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