title: Developmental delay, short stature, and minor facial anomalies in a child with ring chromosome 16.
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.
authors: Department of Pediatrics, University of Manitoba, Winnipeg, Canada.
authors: B N
authors: BN
authors: Chodirker
authors: M
authors: M
authors: Ray
authors: P J
authors: PJ
authors: McAlpine
authors: D
authors: D
authors: Riordan
authors: A
authors: A
authors: Vust
authors: D
authors: D
authors: Pugh
authors: A E
authors: AE
authors: Chudley
mesh_terms: 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
chemical_list: D000410:Alanine Transaminase