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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
1995-8-28
|
| pubmed:abstractText |
We report on a combined high resolution cytogenetic and fluorescent in situ hybridization study (FISH) on 15 Prader-Willi syndrome (PWS) and 14 Angelman syndrome (AS) patients. High resolution banding showed a microdeletion in the 15q11-q13 region in 7 out of 15 PWS patients, and FISH analysis of the D15S11 and SNRPN cosmids demonstrated absence of the critical region in three additional cases. Likewise 8 out of 14 AS patients were found to be deleted with FISH, using the GABRB3 specific cosmid, whereas only 4 of them had a cytogenetically detectable deletion.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Mar
|
| pubmed:issn |
0148-7299
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
27
|
| pubmed:volume |
56
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
224-8
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:7625450-Angelman Syndrome,
pubmed-meshheading:7625450-Chromosome Banding,
pubmed-meshheading:7625450-Chromosome Deletion,
pubmed-meshheading:7625450-Chromosome Mapping,
pubmed-meshheading:7625450-Chromosomes, Human, Pair 15,
pubmed-meshheading:7625450-Humans,
pubmed-meshheading:7625450-In Situ Hybridization, Fluorescence,
pubmed-meshheading:7625450-Prader-Willi Syndrome
|
| pubmed:year |
1995
|
| pubmed:articleTitle |
FISH analysis in Prader-Willi and Angelman syndrome patients.
|
| pubmed:affiliation |
Laboratorio di Citogenetica, Centro Auxologico Italiano, Milan.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|