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Developmental delay, short stature, and minor facial anomalies in a child with ring chromosome 16
B N Chodirker1, M Ray, P J McAlpine
1Department of Pediatrics, University of Manitoba, Winnipeg, Canada.
American Journal of Medical Genetics
|September 1, 1988
Abstract:
We present a girl with ring chromosome 16. Clinical abnormalities included developmental delay, short stature, and minor facial anomalies. Analysis of the glutamate-pyruvate transaminase (GPT) phenotype suggests the possible exclusion of the GPT locus expressed in erythrocytes (GPT) from the very distal p13 region of chromosome 16.