MONOZYGOTIC TWINNING AND WIEDEMANN-BECKWITH SYNDROME
MONOZYGOTIC TWINNING AND WIEDEMANN-BECKWITH SYNDROME
复制标题
DOI：
10.1002/ajmg.1320420440
复制
发表时间：
1992-02-15
期刊：
影响因子：
--
通讯作者：
DONNAI, D
中科院分区：
文献类型：
--
作者：
CLAYTONSMITH, J;READ, AP;DONNAI, D
同卵（MZ）双胞胎在Wiedemann-Beckwith综合征（WBS）中发生的频率较高。报道了10对MZ双胞胎WBS。其中9名是女性，每对双胞胎的WBS表型都不一致。第十是男丁。他们在WBS上是一致的，并且都有15号染色体的重复，这与他们表型正常的母亲是相同的。WBS基因已被分配到11p15位点，似乎有几种不同的遗传机制涉及该位点，这些遗传机制都引起WBS。在一些大型家系中，由于WBS基因优先通过母系传播，因此提出了WBS基因的印记效应。我们描述了另外两组患有WBS的女性MZ双胞胎。一对是和谐的，另一对是不和谐的。讨论了WBS表达的可能遗传机制，特别是双胞胎，基因组印记和x失活，这被认为与雌性MZ双胞胎的发生有关。
Monozygotic (MZ) twinning occurs with relatively high frequency in Wiedemann-Beckwith syndrome (WBS). Ten sets of MZ twins with WBS have been reported. Nine of these have been female and in each case the twins were discordant for the WBS phenotype. The tenth set was male. They were concordant for WBS and both had a duplication of chromosome 15 which they shared in common with their phenotypically normal mother. The WBS gene has been asigned to the locus 11p15 and there appear to be several different genetic mechanisms involving this locus which all give rise to WBS. An imprinting effect for the WBS gene has been proposed because of the transmission of the gene preferentially through the maternal line in some large pedigrees. We describe two further sets of female MZ twins with WBS. One pair is concordant and one discordant for the condition. The possible genetic mechanisms involved in the expression of WBS are discussed, with particular reference to twinning, genomic imprinting and X-inactivation which is thought to be associated with the occurrence of MZ twinning in females.