Switch to
Predicate | Object |
---|---|
rdf:type | |
lifeskim:mentions | |
pubmed:issue |
5
|
pubmed:dateCreated |
1999-3-10
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pubmed:abstractText |
A rare chromosome 5 heterochromatic variant not linked to any clinical sign was identified in a three-generation family. After performing conventional cytogenetics characterization, fluorescence in situ hybridization of D9Z1 indicated that the unusually large qh region of chromosome 5 originated from 9qh, whereas the centromere of the variant chromosome was 5-specific as demonstrated by primed in situ DNA labelling. FISH of probes targeting satellite 3 and beta-satellite sequences of 9qh showed that only satellite 3 sequences were present in the variant 5qh region.
|
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:chemical | |
pubmed:status |
MEDLINE
|
pubmed:month |
Aug
|
pubmed:issn |
0967-3849
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pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
6
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
411-4
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:9872671-Adult,
pubmed-meshheading:9872671-Child, Preschool,
pubmed-meshheading:9872671-Chromosomes, Human, Pair 5,
pubmed-meshheading:9872671-Chromosomes, Human, Pair 9,
pubmed-meshheading:9872671-Cytogenetics,
pubmed-meshheading:9872671-DNA, Satellite,
pubmed-meshheading:9872671-DNA Primers,
pubmed-meshheading:9872671-Genetic Variation,
pubmed-meshheading:9872671-Heterochromatin,
pubmed-meshheading:9872671-Humans,
pubmed-meshheading:9872671-In Situ Hybridization, Fluorescence
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pubmed:year |
1998
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pubmed:articleTitle |
A rare chromosome 5 heterochromatic variant derived from insertion of 9qh satellite 3 sequences.
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pubmed:affiliation |
Departement of Biology and Genetics, Medical Faculty, University of Milan, Italy.
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|