Wiedemann‐Beckwith syndrome: Autosomal‐dominant inheritance in a family
Authors:
- John M. OpitzJOJohn M. Opitz
- 1 January 1981
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 9 (4) , 291-299
Abstract
We report four additional cases of Wiedemann‐Beckwith syndrome (WBS): A mother, her brother, and two of her children (half‐sibs). Theories of the genetic transmission of the WBS are reviewed. The trait in this family appears to be an autosomal‐dominant with variable expressivity. A theory of delayed mutation of an unstable premutated gene is discussed and an interpretation and observations are offered which could alter slightly the expected pattern of inheritance. Eighty‐eight other family members were screened for evidence of WBS and noteworthy findings are presented.Keywords
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