|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0004083,
umls-concept:C0033053,
umls-concept:C0040715,
umls-concept:C0079411,
umls-concept:C0199236,
umls-concept:C0303920,
umls-concept:C0332221,
umls-concept:C0599718,
umls-concept:C0599813,
umls-concept:C0599893,
umls-concept:C0936012,
umls-concept:C1522702,
umls-concept:C2745888
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|
pubmed:issue |
4
|
|
pubmed:dateCreated |
1975-11-5
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|
pubmed:abstractText |
A (13q21q) translocation was found in an infant with Down's syndrome. The 17-year-old mother and the grandmother carried the translocation 45,XX,t(13;21)(p12;q11). The great grandparents had normal karyotypes. Fluorescence marker studies suggested that the translocation originated in the great grandmother. The hypothesis was supported by satellite association studies which showed a significant excess of 13-21 and 13-15 associations in the great grandmother.
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|
pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:status |
MEDLINE
|
|
pubmed:issn |
0018-7348
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
27
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
303-7
|
|
pubmed:dateRevised |
2004-11-17
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|
pubmed:meshHeading |
pubmed-meshheading:125223-Amniocentesis,
pubmed-meshheading:125223-Chromosome Aberrations,
pubmed-meshheading:125223-Chromosomes,
pubmed-meshheading:125223-Chromosomes, Human, 13-15,
pubmed-meshheading:125223-Chromosomes, Human, 21-22 and Y,
pubmed-meshheading:125223-Down Syndrome,
pubmed-meshheading:125223-Female,
pubmed-meshheading:125223-Humans,
pubmed-meshheading:125223-Infant,
pubmed-meshheading:125223-Karyotyping,
pubmed-meshheading:125223-Microscopy, Fluorescence,
pubmed-meshheading:125223-Pedigree,
pubmed-meshheading:125223-Translocation, Genetic
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|
pubmed:year |
1975
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|
pubmed:articleTitle |
Translocation (13q21q). Four generation family study with analysis of satellite associations, fluorescent markers, and prenatal diagnosis.
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|
pubmed:publicationType |
Journal Article
|
