|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
9
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|
pubmed:dateCreated |
1991-2-28
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|
pubmed:abstractText |
A family with three brothers presenting 12p trisomy due to an adjacent-1 segregation of a paternal translocation (1;12) (q44;p12.2) is described. The patient's phenotype was compatible with the chromosomal imbalance including the gene dosage effect of the glyceraldehyde-3-phosphate dehydrogenase. The importance of the genetic counseling in these families is stressed.
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pubmed:language |
spa
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|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
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|
pubmed:month |
Sep
|
|
pubmed:issn |
0539-6115
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|
pubmed:author |
|
|
pubmed:issnType |
Print
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|
pubmed:volume |
47
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
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pubmed:pagination |
656-9
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|
pubmed:dateRevised |
2006-11-15
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|
pubmed:meshHeading |
pubmed-meshheading:2271129-Abnormalities, Multiple,
pubmed-meshheading:2271129-Child, Preschool,
pubmed-meshheading:2271129-Chromosomes, Human, Pair 12,
pubmed-meshheading:2271129-Dosage Compensation, Genetic,
pubmed-meshheading:2271129-Glyceraldehyde-3-Phosphate Dehydrogenases,
pubmed-meshheading:2271129-Humans,
pubmed-meshheading:2271129-Infant,
pubmed-meshheading:2271129-Karyotyping,
pubmed-meshheading:2271129-Male,
pubmed-meshheading:2271129-Pedigree,
pubmed-meshheading:2271129-Phenotype,
pubmed-meshheading:2271129-Trisomy
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|
pubmed:year |
1990
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|
pubmed:articleTitle |
[Effect of gene dosage on the glyceraldehyde-3-phosphate dehydrogenase enzyme (GAPD) in partial 12p13.3 pter trisomy].
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|
pubmed:affiliation |
División de Genética, Unidad de Investigación Biomédica, Guadalajara, Jalisco.
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pubmed:publicationType |
Journal Article,
English Abstract,
Case Reports
|
