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Clin Genet. 1991 Oct;40(4):326-8.

Tuberous sclerosis in a child with de novo translocation t(3;12) (p26.3;q23.3).

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  • 1Institut für Humangenetik, Universität Erlangen-Nürnberg, FRG.


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.

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