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

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

Fahsold R, Rott HD, Claussen U, Schmalenberger B.

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Institut für Humangenetik, Universität Erlangen-Nürnberg, FRG.

Abstract

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.

PMID:: 1756605; [PubMed - indexed for MEDLINE]

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Cited by 1 PubMed Central article

Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q, and 12q. The Tuberous Sclerosis Collaborative Group. [J Med Genet. 1992]
Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q, and 12q. The Tuberous Sclerosis Collaborative Group.
Sampson JR, Janssen LA, Sandkuijl LA. J Med Genet. 1992 Dec; 29(12):861-6.

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