|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
5
|
|
pubmed:dateCreated |
1985-9-26
|
|
pubmed:abstractText |
We present four cases of Prader-Willi syndrome. Two of them have an abnormality of a chromosome 15, the other both show different chromosomal abnormalities. Translocations or deletions were found recently in the bands 15q11/12 in about 60% of the cases of Prader-Willi syndrome. The consequences for diagnosis, symptomatology and genetic counselling of the syndrome are discussed.
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|
pubmed:language |
ger
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
May
|
|
pubmed:issn |
0033-2739
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
37
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
255-61
|
|
pubmed:dateRevised |
2011-11-17
|
|
pubmed:meshHeading |
pubmed-meshheading:4023109-Child,
pubmed-meshheading:4023109-Child, Preschool,
pubmed-meshheading:4023109-Chromosome Aberrations,
pubmed-meshheading:4023109-Chromosome Disorders,
pubmed-meshheading:4023109-Female,
pubmed-meshheading:4023109-Humans,
pubmed-meshheading:4023109-Hypogonadism,
pubmed-meshheading:4023109-Infant,
pubmed-meshheading:4023109-Infant, Newborn,
pubmed-meshheading:4023109-Intellectual Disability,
pubmed-meshheading:4023109-Karyotyping,
pubmed-meshheading:4023109-Male,
pubmed-meshheading:4023109-Muscle Hypotonia,
pubmed-meshheading:4023109-Obesity,
pubmed-meshheading:4023109-Prader-Willi Syndrome,
pubmed-meshheading:4023109-Translocation, Genetic
|
|
pubmed:year |
1985
|
|
pubmed:articleTitle |
[Infant hypotonia, obesity, hypogenitalism and oligophrenia--new viewpoints on the etiology and symptoms of Prader-Willi syndrome].
|
|
pubmed:publicationType |
Journal Article,
English Abstract
|
