Literature DB >> 2464927

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

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

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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Year:  1988        PMID： 2464927     DOI： 10.1002/ajmg.1320310117

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  2 in total

1.  Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.

Authors:  A O Wilkie; V J Buckle; P C Harris; J Lamb; N J Barton; S T Reeders; R H Lindenbaum; R D Nicholls; M Barrow; N C Bethlenfalvay
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025

2.  Prenatal Diagnosis of a Fetus with de novo Supernumerary Ring Chromosome 16 Characterized by Array Comparative Genomic Hybridization.

Authors:  Pietro Cignini; Angela Dinatale; Laura D'Emidio; Annamaria Giacobbe; Elisa Maria Pappalardo; Santina Ermito; Domenico Bizzoco; Gianluca Di Giacomo; Ivan Gabrielli; Alvaro Mesoraca; Maurizio Giorlandino; Claudio Giorlandino
Journal:  AJP Rep       Date:  2011-03-18
  2 in total

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