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rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0017857,
umls-concept:C0332148,
umls-concept:C1261273,
umls-concept:C1283195,
umls-concept:C1414968,
umls-concept:C1511780,
umls-concept:C1516050,
umls-concept:C1708726,
umls-concept:C1824893,
umls-concept:C1837441,
umls-concept:C2248827,
umls-concept:C2828389
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|
pubmed:issue |
3
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|
pubmed:dateCreated |
1986-3-5
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|
pubmed:abstractText |
A female infant with partial trisomy 3p and a terminal deletion 12p, due to a paternal (3;12)(p25.1;p13.31) translocation is described. Normal glyceraldehyde-3-phosphate (GAPD) activity in the proposita tentatively excludes GAPD locus from the deleted segment. Therefore, the region for this locus is reduced to 12p13.1----p13.31.
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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:issn |
0003-3995
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pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
28
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
189-92
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:3879156-Abnormalities, Multiple,
pubmed-meshheading:3879156-Chromosome Aberrations,
pubmed-meshheading:3879156-Chromosome Deletion,
pubmed-meshheading:3879156-Chromosome Disorders,
pubmed-meshheading:3879156-Chromosomes, Human, 1-3,
pubmed-meshheading:3879156-Chromosomes, Human, 6-12 and X,
pubmed-meshheading:3879156-Female,
pubmed-meshheading:3879156-Glyceraldehyde,
pubmed-meshheading:3879156-Glyceraldehyde 3-Phosphate,
pubmed-meshheading:3879156-Humans,
pubmed-meshheading:3879156-Infant,
pubmed-meshheading:3879156-Karyotyping,
pubmed-meshheading:3879156-Psychomotor Disorders,
pubmed-meshheading:3879156-Translocation, Genetic,
pubmed-meshheading:3879156-Trisomy
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pubmed:year |
1985
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pubmed:articleTitle |
46,XX,-12,+der(12),rcp(3;12)(p25.1;p13.31)pat karyotype in a girl. Probable subregional assignment of glyceraldehyde-3-phosphate dehydrogenase locus to 12p13.1----p13.31 by exclusion mapping.
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pubmed:publicationType |
Journal Article,
Case Reports
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