Sherman S L, Turner G, Sheffield L, Laing S, Robinson H
Memorial Sloan-Kettering Cancer Center, NY, NY 10021.
Am J Med Genet. 1988 May-Jun;30(1-2):625-31. doi: 10.1002/ajmg.1320300163.
An excess of twins in families with the Martin-Bell or fra(X) syndrome was noted previously in one family study [Fryns, 1986]. We tried to confirm this observation in a second large sample of families from a different population. We calculated the number of twin births among the total number of live births of known obligate carriers found in fra(X) families ascertained in New South Wales, Australia. We only included births of known sex and excluded triplets. There were 5 male pairs, 3 female pairs and 9 unlike sex pairs of twins born among 752 live births. Thus the twining rate was 1/44 per live birth. We compared this rate to that found in two different types of individuals: 1) the rate of 1/96 which was obtained from the 1985 vital statistics for New South Wales, and 2) the rate 1/75 obtained from a sample of live births of obligate carriers with hemophilia A. The increase in twinning among heterozygotes with the fra(X) was highly significant when compared to the census data (p less than 0.001). However, it was not significantly different from that in the hemophilia data (p less than 0.05) which were collected in the same way as in the fra(X) families.
在之前的一项家族研究中 [弗林斯,1986年] 就已注意到,患有马丁 - 贝尔综合征或脆性X染色体综合征(fra(X))的家族中双胞胎数量过多。我们试图在来自不同人群的第二个大样本家族中证实这一观察结果。我们计算了在澳大利亚新南威尔士州确诊的fra(X)家族中已知的 obligate carriers(可能是特定携带者,文中未明确翻译)的活产总数中的双胞胎出生数量。我们只纳入了已知性别的出生情况,并排除了三胞胎。在752例活产中,有5对男性双胞胎、3对女性双胞胎和9对不同性别的双胞胎。因此,双胞胎出生率为每例活产1/44。我们将这个比率与在两种不同类型个体中发现的比率进行了比较:1)从新南威尔士州1985年人口动态统计数据中获得的1/96的比率,以及2)从患有甲型血友病的 obligate carriers 的活产样本中获得的1/75的比率。与人口普查数据相比,fra(X)杂合子中双胞胎出生率的增加非常显著(p小于0.001)。然而,与以与fra(X)家族相同方式收集的血友病数据相比,它没有显著差异(p小于0.05)。