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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
6
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pubmed:dateCreated |
1991-4-4
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pubmed:abstractText |
Karyotype and DNA analyses using DNA probes were carried out in a family with the Cohen syndrome. Two affected brothers had normal chromosomal constitutions. A major deletion or duplication of genomic DNA fragments hybridized with the DNA probes, pML34 at D15S9 locus and pTD3-21 at D15S10 locus, assigned on 15q11-q12 was not detected in the patients. In addition, a linkage of the syndrome to D15S9 and D15S10 loci was not observed in the family. These data suggest that a gene for the Cohen syndrome is excluded from the 15q11-q12 region, on which a gene for the Prader-Willi syndrome is assigned, and that the Cohen syndrome is distinctly different from the Prader-Willi syndrome, although clinical manifestations of the Cohen and the Prader-Willi syndromes are very similar.
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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 |
Dec
|
pubmed:issn |
0009-9163
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
38
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
|
pubmed:pagination |
422-6
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:1981180-Child,
pubmed-meshheading:1981180-Chromosome Aberrations,
pubmed-meshheading:1981180-Chromosome Disorders,
pubmed-meshheading:1981180-Chromosome Mapping,
pubmed-meshheading:1981180-Consanguinity,
pubmed-meshheading:1981180-DNA Probes,
pubmed-meshheading:1981180-Genetic Linkage,
pubmed-meshheading:1981180-Humans,
pubmed-meshheading:1981180-Intellectual Disability,
pubmed-meshheading:1981180-Male,
pubmed-meshheading:1981180-Muscle Hypotonia,
pubmed-meshheading:1981180-Obesity,
pubmed-meshheading:1981180-Pedigree,
pubmed-meshheading:1981180-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:1981180-Prader-Willi Syndrome,
pubmed-meshheading:1981180-Retinitis Pigmentosa
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pubmed:year |
1990
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pubmed:articleTitle |
Exclusion mapping of the Cohen syndrome gene from the Prader-Willi syndrome locus.
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pubmed:affiliation |
Department of Human Ecology and Genetics, Faculty of Medicine, University of the Ryukyus, Okinawa, Japan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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