title: Tuberous sclerosis in two sibs of normal parents.
abstract: We report on a family with two sibs suffering from tuberous sclerosis. The parents were normal in all clinical tests including Wood's light examination of the skin, ophthalmoscopy, X-ray computerized tomography of brain, liver, and kidneys, cardiac echography and MR imaging of the brain. The most likely explanation is a germinal cell mosaic in one of the parents. A recurrence risk of 20 to 37% seems appropriate. The implications for risk assessment of sporadic cases are emphasized.
authors.affiliation: Institut für Humangenetik, Universität Erlangen-Nürnberg, FRG.
authors.forename: H D
authors.initials: HD
authors.lastname: Rott
authors.forename: R
authors.initials: R
authors.lastname: Fahsold
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D014057:Tomography, X-Ray Computed; D014402:Tuberous Sclerosis / Q000000981:diagnostic imaging / Q000235:genetics*