Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1992-2-6
|
| pubmed:abstractText |
We report on an 8-year-old boy with severe mental retardation, epileptic seizures, autistic behaviour, and X-ray CT findings of the skull characteristics for tuberous sclerosis. At the age of 9 years, first signs of adenoma sebaceum developed. Chromosomal analysis revealed a translocation t(3;12)(p26.3;q23.3). The parents were both healthy and had normal karyotypes. As non-random association of a chromosomal abnormality and tuberous sclerosis is hypothesized, a third locus for this disorder on 3p26 or 12q23 has to be taken in account.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Oct
|
| pubmed:issn |
0009-9163
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
40
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
326-8
|
| pubmed:dateRevised |
2011-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:1756605-Autistic Disorder,
pubmed-meshheading:1756605-Child,
pubmed-meshheading:1756605-Chromosomes, Human, Pair 12,
pubmed-meshheading:1756605-Chromosomes, Human, Pair 3,
pubmed-meshheading:1756605-Epilepsy,
pubmed-meshheading:1756605-Humans,
pubmed-meshheading:1756605-Intellectual Disability,
pubmed-meshheading:1756605-Karyotyping,
pubmed-meshheading:1756605-Male,
pubmed-meshheading:1756605-Tomography, X-Ray Computed,
pubmed-meshheading:1756605-Translocation, Genetic,
pubmed-meshheading:1756605-Tuberous Sclerosis
|
| pubmed:year |
1991
|
| pubmed:articleTitle |
Tuberous sclerosis in a child with de novo translocation t(3;12) (p26.3;q23.3).
|
| pubmed:affiliation |
Institut für Humangenetik, Universität Erlangen-Nürnberg, FRG.
|
| pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|