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

B N Chodirker; M Ray; P J McAlpine; D Riordan; A Vust; D Pugh; A E Chudley

doi:10.1002/ajmg.1320310117

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

Am J Med Genet. 1988 Sep;31(1):145-51. doi: 10.1002/ajmg.1320310117.

Authors

B N Chodirker¹, M Ray, P J McAlpine, D Riordan, A Vust, D Pugh, A E Chudley

Affiliation

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

PMID: 2464927
DOI: 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 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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Alanine Transaminase / genetics
Child, Preschool
Chromosome Aberrations*
Chromosome Banding
Chromosomes, Human, Pair 16*
Developmental Disabilities / complications
Developmental Disabilities / genetics*
Facial Bones / abnormalities*
Female
Growth Disorders / complications
Growth Disorders / genetics*
Humans
Karyotyping
Phenotype
Ring Chromosomes*

Substances

Alanine Transaminase