Format

Send to

Choose Destination
Am J Med Genet. 1988 Sep;31(1):145-51.

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

Author information

1
Department of Pediatrics, University of Manitoba, Winnipeg, Canada.

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.

PMID:
2464927
DOI:
10.1002/ajmg.1320310117
[Indexed for MEDLINE]

Supplemental Content

Loading ...
Support Center