del(20p) with manifestations of arteriohepatic dysplasia - PubMed (original) (raw)

Case Reports

del(20p) with manifestations of arteriohepatic dysplasia

J L Byrne et al. Am J Med Genet. 1986 Aug.

Abstract

A small-for-gestational age white female infant was noted to have multiple minor anomalies and severe jejunal stenosis. Mild peripheral pulmonic stenosis, skeletal anomalies, and cholestasis with paucity of intrahepatic bile ducts were observed, and she was diagnosed as having arteriohepatic dysplasia. Chromosome analysis of peripheral blood leukocytes showed a 46,XX,del(20)(p11.2) chromosome constitution.

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