Tuberous sclerosis in a child with de novo translocation t(3; 12) (p26.3; q23.3)
| Autor: | Uwe Claussen, R. Fahsold, Hans-Dieter Rott, B. Schmalenberger |
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| Rok vydání: | 2008 |
| Předmět: |
Male
Pathology medicine.medical_specialty Chromosomal translocation Biology Translocation Genetic Tuberous sclerosis Gene mapping Tuberous Sclerosis Intellectual Disability Genetics medicine Humans Autistic Disorder Child Genetics (clinical) Chromosome 12 Adenoma sebaceum Chromosomes Human Pair 12 Epilepsy Cytogenetics Karyotype medicine.disease El Niño Karyotyping Chromosomes Human Pair 3 medicine.symptom Tomography X-Ray Computed |
| Zdroj: | Clinical Genetics. 40:326-328 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1991.tb03103.x |
| Popis: | We report on an 8-year-old boy with severe mental retardation, epileptic seizures, autistic behaviour, and X-ray CT findings of the skull characteristic 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. |
| Databáze: | OpenAIRE |
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