Del(20p) with manifestations of arteriohepatic dysplasia
- 1 August 1986
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 24 (4) , 673-678
- https://doi.org/10.1002/ajmg.1320240411
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.Keywords
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