del(20p) with manifestations of arteriohepatic dysplasia.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001652:Bile Ducts / Q000002:abnormalities; D002780:Cholestasis, Intrahepatic / Q000151:congenital* / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002903:Chromosomes, Human, 19-20 / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007236:Infant, Small for Gestational Age; D007583:Jejunum / Q000002:abnormalities; D011651:Pulmonary Artery / Q000002:abnormalities*