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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
1981-11-22
|
| pubmed:abstractText |
An 18-year-old girl with an X-autosome translocation t(X;9)(q22;q12) had primary amenorrhea without other manifestations of the Turner syndrome. X-replication and GALT activity studies showed that both of the two translocated X fragments and adjacent autosomal segments are active. An explanation is offered to account for the relationship between the abnormal karyotype and the phenotype. It is suggested that a position effect and/or an effect exerted between reactivation of the X chromosome and oocyte meiosis may be important in the pathogenesis of the amenorrhea.
|
| pubmed:grant | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:issn |
0003-3995
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
24
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
162-4
|
| pubmed:dateRevised |
2007-11-14
|
| pubmed:meshHeading |
pubmed-meshheading:6974526-Adolescent,
pubmed-meshheading:6974526-Amenorrhea,
pubmed-meshheading:6974526-Chromosome Banding,
pubmed-meshheading:6974526-Chromosomes, Human, 6-12 and X,
pubmed-meshheading:6974526-Female,
pubmed-meshheading:6974526-Humans,
pubmed-meshheading:6974526-Sex Chromosomes,
pubmed-meshheading:6974526-Translocation, Genetic,
pubmed-meshheading:6974526-X Chromosome
|
| pubmed:year |
1981
|
| pubmed:articleTitle |
Balanced reciprocal (X;9) translocation in a girl with primary amenorrhea.
|
| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
|