title: Tuberous sclerosis in a child with de novo translocation t(3;12) (p26.3;q23.3).
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.
authors.affiliation: Institut für Humangenetik, Universität Erlangen-Nürnberg, FRG.
authors.forename: R
authors.initials: R
authors.lastname: Fahsold
authors.forename: H D
authors.initials: HD
authors.lastname: Rott
authors.forename: U
authors.initials: U
authors.lastname: Claussen
authors.forename: B
authors.initials: B
authors.lastname: Schmalenberger
mesh_terms: D001321:Autistic Disorder / Q000235:genetics; D002648:Child; D002881:Chromosomes, Human, Pair 12; D002893:Chromosomes, Human, Pair 3; D004827:Epilepsy / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D014057:Tomography, X-Ray Computed; D014178:Translocation, Genetic / Q000235:genetics*; D014402:Tuberous Sclerosis / Q000000981:diagnostic imaging / Q000235:genetics*