Rott H D, Fahsold R
Institut für Humangenetik, Universität Erlangen-Nürnberg, FRG.
Clin Genet. 1991 Apr;39(4):306-8. doi: 10.1111/j.1399-0004.1991.tb03031.x.
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.
