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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1989-3-23
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pubmed:abstractText |
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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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
0148-7299
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
31
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
145-51
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:2464927-Alanine Transaminase,
pubmed-meshheading:2464927-Child, Preschool,
pubmed-meshheading:2464927-Chromosome Aberrations,
pubmed-meshheading:2464927-Chromosome Banding,
pubmed-meshheading:2464927-Chromosomes, Human, Pair 16,
pubmed-meshheading:2464927-Developmental Disabilities,
pubmed-meshheading:2464927-Facial Bones,
pubmed-meshheading:2464927-Female,
pubmed-meshheading:2464927-Growth Disorders,
pubmed-meshheading:2464927-Humans,
pubmed-meshheading:2464927-Karyotyping,
pubmed-meshheading:2464927-Phenotype,
pubmed-meshheading:2464927-Ring Chromosomes
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pubmed:year |
1988
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pubmed:articleTitle |
Developmental delay, short stature, and minor facial anomalies in a child with ring chromosome 16.
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pubmed:affiliation |
Department of Pediatrics, University of Manitoba, Winnipeg, Canada.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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