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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
1995-10-19
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pubmed:abstractText |
The presence of Y chromosome sequences in Ullrich-Turner syndrome (UTS) patients has been suggested in previous work. Karyotype analysis estimated at about 60% of patients with a 45, X constitution and molecular analysis (Southern blot analysis with several Y chromosome probes and PCR of specific sequences) identified the presence of Y chromosome material in about 40% of 45, X patients. We have developed a very sensitive, PCR-based method to detect Y specific sequences in DNA from UTS patients. This protocol permits the detection of a single cell carrying a Y sequence among 10(5) Y-negative cells. We studied 18 UTS patients with 4 Y-specific sequences. In 11 patients we detected a positive amplification for at least one Y sequence. The existence of a simple and sensitive method for the detection of Y sequences has important implications for UTS patients, in view of the risk for some of the females carrying Y-chromosome material of developing gonadoblastoma and virilization. Additionally, some of the UTS associated phenotypes, such as renal anomalies, could be correlated with the presence of Y chromosome specific sequences.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0148-7299
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:day |
3
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pubmed:volume |
57
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
393-6
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:7677140-Adolescent,
pubmed-meshheading:7677140-Base Sequence,
pubmed-meshheading:7677140-Child,
pubmed-meshheading:7677140-Child, Preschool,
pubmed-meshheading:7677140-DNA Primers,
pubmed-meshheading:7677140-Female,
pubmed-meshheading:7677140-Humans,
pubmed-meshheading:7677140-Infant,
pubmed-meshheading:7677140-Infant, Newborn,
pubmed-meshheading:7677140-Karyotyping,
pubmed-meshheading:7677140-Molecular Sequence Data,
pubmed-meshheading:7677140-Polymerase Chain Reaction,
pubmed-meshheading:7677140-Turner Syndrome,
pubmed-meshheading:7677140-Y Chromosome
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pubmed:year |
1995
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pubmed:articleTitle |
PCR-based study of the presence of Y-chromosome sequences in patients with Ullrich-Turner syndrome.
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pubmed:affiliation |
Laboratorio de Genética Molecular (Servicio de Immunología, Hospital Central de Asturias, Oviedo, Spain.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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