[The genetic aspects of Williams-Beuren syndrome and the isolated form of the supravalvular aortic stenosis. Investigation of 128 families (author's transl)].
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 in addition to their cardiac lesion. In conclusion, 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 . 10(-5).
D001021:Aortic Valve / Q000002:abnormalities*; D001024:Aortic Valve Stenosis / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome
Zur Genetik des Williams-Beuren-Syndroms und der isolierten Form der supravalvulären Aortenstenose. Untersuchungen von 128 Familien.