1. del(20p) with manifestations of arteriohepatic dysplasia
- Author
-
J. L. B. Byrne, M. J. E. Harrod, J. M. Friedman, P. N. Howard-Peebles, John M. Opitz, and James F. Reynolds
- Subjects
Monosomy ,Pathology ,medicine.medical_specialty ,Chromosomes, Human, 19-20 ,Intrahepatic bile ducts ,Chromosome Disorders ,Cholestasis, Intrahepatic ,Biology ,Pulmonary Artery ,Peripheral pulmonic stenosis ,Cholestasis ,medicine ,Humans ,Abnormalities, Multiple ,Genetics (clinical) ,Genetics ,Chromosome Aberrations ,Infant, Newborn ,medicine.disease ,Peripheral blood ,Jejunum ,Dysplasia ,Infant, Small for Gestational Age ,Jejunal Stenosis ,Small for gestational age ,Female ,Bile Ducts ,Chromosome Deletion - 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.
- Published
- 1986