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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
|
pubmed:dateCreated |
1979-5-26
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pubmed:abstractText |
A 31-year-old woman of short stature with severe oligomenorrhea was found to carry a duplication-deficiency X chromosome, 46,X,rec(X)dup q,inv(X)(p22q11), inherited from her mother who carried a pericentric inversion X chromosome, 46,X,inv(X)(p22q11). By a combination of autoradiography and BUdR incorporation, the duplication-deficiency X chromosome was always found to be the inactive and late replicating one. In the cultured fibroblasts with the recombinant X chromosome, some of the cells were seen to have bipartite X chromatin bodies. In the mother with inv(X), the normal and the inverted X chromosome were inactivated at random.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0009-9163
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
15
|
pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
259-66
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:421365-Adult,
pubmed-meshheading:421365-Chromosome Banding,
pubmed-meshheading:421365-Chromosome Inversion,
pubmed-meshheading:421365-Female,
pubmed-meshheading:421365-Humans,
pubmed-meshheading:421365-Pedigree,
pubmed-meshheading:421365-Sex Chromosomes,
pubmed-meshheading:421365-Turner Syndrome,
pubmed-meshheading:421365-X Chromosome
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pubmed:year |
1979
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pubmed:articleTitle |
Turner's syndrome with a duplication-deficiency X chromosome derived from a maternal pericentric inversion X chromosome.
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pubmed:publicationType |
Journal Article,
Case Reports
|