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Case Reports
. 1988 Sep;31(1):145-51.
doi: 10.1002/ajmg.1320310117.

Developmental delay, short stature, and minor facial anomalies in a child with ring chromosome 16

B N Chodirker  1 , M Ray, P J McAlpine, D Riordan, A Vust, D Pugh, A E Chudley
Affiliations
Case Reports

Developmental delay, short stature, and minor facial anomalies in a child with ring chromosome 16

B N Chodirker et al. Am J Med Genet. 1988 Sep.

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.

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