Source:http://linkedlifedata.com/resource/pubmed/id/11480910
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
2001-8-1
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pubmed:abstractText |
Translocations involving the X and Y chromosomes are often associated with anomalies of gonadal development. Transfer of Yp sequences, including the testis-determining SRY gene, to the terminal portion of the short arm of the X chromosome is associated with 46,XX maleness and in rare cases 46,XX true hermaphroditism. Three classes of XX males have been defined on the basis of the extent of Y material transferred to the X chromosome. In one class, the transfer of material involves aberrant recombination between two highly homologous genes, PKRX and PKRY, and there is evidence to suggest that this interchange is influenced by the Y chromosome background. Other types of X-Y translocations associated with anomalies of sex differentiation include Xp-Yq translocations, which result in a functional disomy of Xp sequences including the DSS locus and are associated with 46,XY complete or partial gonadal dysgenesis. In rare cases Yp-Xq translocations have been described in association with 46,XX maleness.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1526-8004
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
19
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
133-9
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:11480910-Chromosome Mapping,
pubmed-meshheading:11480910-Disorders of Sex Development,
pubmed-meshheading:11480910-Female,
pubmed-meshheading:11480910-Humans,
pubmed-meshheading:11480910-Male,
pubmed-meshheading:11480910-Phenotype,
pubmed-meshheading:11480910-Sex Chromosome Disorders,
pubmed-meshheading:11480910-Sex Determination Processes,
pubmed-meshheading:11480910-Translocation, Genetic,
pubmed-meshheading:11480910-X Chromosome,
pubmed-meshheading:11480910-Y Chromosome
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pubmed:year |
2001
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pubmed:articleTitle |
X-Y translocations and sex differentiation.
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pubmed:affiliation |
Institut Pasteur, Immunogénétique Humaine, INSERM E0021, Paris, France.
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pubmed:publicationType |
Journal Article,
Review
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