Sommer A, Cutler E A, Cohen B L, Harper D, Backes C
Am J Med Genet. 1977;1(1):59-63. doi: 10.1002/ajmg.1320010107.
We describe a family in which 3 sisters gave birth to 8 infants with the Wiedemann-Beckwith syndrome. The clinical manifestations in all the affected individuals included macroglossia, macrosomia and omphalocele, while their mothers all were entirely normal. Pedigree analysis suggests that familial occurrence of the Wiedemann-Beckwith syndrome may be due to delayed mutation.
我们描述了一个家族,其中3名姐妹生下了8名患有威德曼-贝克威思综合征的婴儿。所有受影响个体的临床表现包括巨舌、巨大儿和脐膨出,而她们的母亲均完全正常。系谱分析表明,威德曼-贝克威思综合征的家族性发生可能是由于延迟突变。