Developmental delay, short stature, and minor facial anomalies in a child with ring chromosome 16.
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.
Chodirker
B N
BN
Department of Pediatrics, University of Manitoba, Winnipeg, Canada.
Ray
M
M
McAlpine
P J
PJ
Riordan
D
D
Vust
A
A
Pugh
D
D
Chudley
A E
AE
D000410:Alanine Transaminase / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002885:Chromosomes, Human, Pair 16; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006130:Growth Disorders / Q000150:complications / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D010641:Phenotype; D012303:Ring Chromosomes
D000410:Alanine Transaminase