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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1983-11-23
|
| pubmed:abstractText |
Seven patients are described who have some or all of the symptoms of Prader-Willi syndrome. They were ascertained by varying criteria starting either from the clinical picture or from the identification of a chromosome abnormality involving the proximal portion of the long arm of chromosome 15. The chromosome abnormalities consisted of two balanced translocations (15;18 and 8;15), three unbalanced ones (15;18, 15;19, and 9;15), and one interstitial deletion of bands 15q11 and q12. The seventh case had an unidentified extra chromosome. These data and a review of the literature led to the conclusion that deficiency, transposition, and even duplication of the region(s) 15q11-q13 may all result in a syndrome which is identifiable with or similar to the Prader-Willi syndrome.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:issn |
0340-6717
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
64
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
N
|
| pubmed:pagination |
388-94
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:6618490-Adolescent,
pubmed-meshheading:6618490-Adult,
pubmed-meshheading:6618490-Body Height,
pubmed-meshheading:6618490-Body Weight,
pubmed-meshheading:6618490-Child,
pubmed-meshheading:6618490-Child, Preschool,
pubmed-meshheading:6618490-Chromosome Aberrations,
pubmed-meshheading:6618490-Chromosome Deletion,
pubmed-meshheading:6618490-Chromosomes, Human, 13-15,
pubmed-meshheading:6618490-Chromosomes, Human, 16-18,
pubmed-meshheading:6618490-Chromosomes, Human, 19-20,
pubmed-meshheading:6618490-Chromosomes, Human, 6-12 and X,
pubmed-meshheading:6618490-Consanguinity,
pubmed-meshheading:6618490-Female,
pubmed-meshheading:6618490-Humans,
pubmed-meshheading:6618490-Infant,
pubmed-meshheading:6618490-Infant, Newborn,
pubmed-meshheading:6618490-Karyotyping,
pubmed-meshheading:6618490-Male,
pubmed-meshheading:6618490-Prader-Willi Syndrome,
pubmed-meshheading:6618490-Translocation, Genetic
|
| pubmed:year |
1983
|
| pubmed:articleTitle |
Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|