THE GENETIC-ASPECTS OF WILLIAMS-BEUREN SYNDROME AND THE ISOLATED FORM OF THE SUPRAVALVULAR AORTIC-STENOSIS INVESTIGATION OF 128 FAMILIES

  • 1 January 1980
    • journal article
    • research article
    • Vol. 69  (3) , 168-172
Abstract
Supravalvular aortic stenosis (SVAS) was seen in 128 families. In 23 families several members had SVAS. In 4 families the Williams-Beuren Syndrome (WBS) was present, whereas members of 8 families had some features of the syndrome and a cardiac lesion. No distinct separation can be made between WBS and SVAS. The genetic pattern is autosomal dominant with variable expressivity. The gene frequency is estimated at 10-4 and the mutation rate at 2.5 .cntdot. 10-5.

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