Tuberous sclerosis in two sibs of normal parents.
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.
Rott
H D
HD
Institut für Humangenetik, Universität Erlangen-Nürnberg, FRG.
Fahsold
R
R
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*