title: Wiedemann-Beckwith syndrome: autosomal-dominant inheritance in a family.
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.
mesh_terms: D000328:Adult; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D005838:Genotype; D005877:Gigantism / Q000150:complications / Q000235:genetics*; D006554:Hernia, Umbilical / Q000150:complications / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008260:Macroglossia / Q000150:complications / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome