Developmental delay, short stature, and minor facial anomalies in a child with ring chromosome 16
- 1 September 1988
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 31 (1) , 145-151
- https://doi.org/10.1002/ajmg.1320310117
Abstract
We present a girl with ring chromosome 16. Clinical abnormalities included developmental delay, short stature, and minor facial anomalies. Analysis of the glutamatepyruvate transaminase (GPT) phenotype suggests the possible exclusion of the GPT locus expressed in erythrocytes (GPT) from the very distal p13 region of chromosome 16.Keywords
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