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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
1989-8-11
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pubmed:abstractText |
A rare association of chromosomal, immunological and endocrine defects is described in a young woman with short stature, recurrent pulmonary infections and primary amenorrhea. Cytogenetic studies showed a 45, X karyotype in 65% of peripheral blood lymphocytes and 46,Xr(X) (p22q27) karyotype in the remaining 35%. Severe immunodeficiency was revealed by phenotypical and functional studies and a selective gonadotropin defect was disclosed by endocrinological investigations. An attempt is made to explain the coexistence of the three abnormal pictures.
|
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0391-4097
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pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
12
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
257-63
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:2745937-Adult,
pubmed-meshheading:2745937-Chromosome Aberrations,
pubmed-meshheading:2745937-Female,
pubmed-meshheading:2745937-Gonadotropins, Pituitary,
pubmed-meshheading:2745937-Humans,
pubmed-meshheading:2745937-Immunologic Deficiency Syndromes,
pubmed-meshheading:2745937-Ring Chromosomes,
pubmed-meshheading:2745937-Turner Syndrome
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pubmed:year |
1989
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pubmed:articleTitle |
X-ring Turner's syndrome with combined immunodeficiency and selective gonadotropin defect.
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pubmed:affiliation |
Istituto di Clinica Medical, Università di Perugia, Italy.
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pubmed:publicationType |
Journal Article,
Case Reports
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