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Tuberous sclerosis in two sibs of normal parents
Author(s) -
Rott H.D.,
Fahsold R.
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb03031.x
Subject(s) - tuberous sclerosis , genetics , medicine , biology , pathology
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.