Wiedemann-Beckwith syndrome: autosomal-dominant inheritance in a family.
Wiedemann-Beckwith syndrome: autosomal-dominant inheritance in a family.
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Wiedemann-Beckwith 综合征：家族中的常染色体显性遗传。
DOI：
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发表时间：
1981
期刊：
影响因子：
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通讯作者：
J. M. Opitz
中科院分区：
文献类型：
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作者：
L. Best;Ronald E. Hoekstra;J. M. Opitz
我们报告了另外四例Wiedemann-Beckwith综合征（WBS）：一位母亲，她的兄弟和她的两个孩子（半同胞）。对工作倦怠遗传传递的理论进行了综述。在这个家庭的特点似乎是一个常染色体显性与变量的表现力。一个理论的延迟突变的不稳定premutated基因进行了讨论，并提供了一个解释和意见，可能会稍微改变预期的遗传模式。其他88个家庭成员进行了筛选的WBS的证据和值得注意的结果。
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.