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    Clin Genet. 1991 Apr;39(4):306-8.

    Tuberous sclerosis in two sibs of normal parents.

    Rott HD, Fahsold R.

    Source

    Institut für Humangenetik, Universität Erlangen-Nürnberg, FRG.

    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.

    PMID:
    2070549
    [PubMed - indexed for MEDLINE]

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      Cited by 2 PubMed Central articles

      • High rate of mosaicism in tuberous sclerosis complex. [Am J Hum Genet. 1999]
        High rate of mosaicism in tuberous sclerosis complex.
        Verhoef S, Bakker L, Tempelaars AM, Hesseling-Janssen AL, Mazurczak T, Jozwiak S, Fois A, Bartalini G, Zonnenberg BA, van Essen AJ, et al. Am J Hum Genet. 1999 Jun; 64(6):1632-7.
      • Variability of expression in tuberous sclerosis. [J Med Genet. 1993]
        Variability of expression in tuberous sclerosis.
        Northrup H, Wheless JW, Bertin TK, Lewis RA. J Med Genet. 1993 Jan; 30(1):41-3.

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