Population incidence and segregation ratios in the Martin-Bell syndrome.
Population incidence and segregation ratios in the Martin-Bell syndrome.
复制标题
马丁-贝尔综合征的人口发病率和隔离率。
DOI：
10.1002/ajmg.1320230151
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发表时间：
1986
期刊：
影响因子：
--
通讯作者：
J. Todd
中科院分区：
文献类型：
--
作者：
T. Webb;S. Bundey;A. Thake;J. Todd
在考文垂市，对在教育残疾学校上学的儿童进行了临床和细胞遗传学研究。因此，对学生中马丁-贝尔综合征的人口发病率进行了估计。在男学生中，由于fra（X）而导致的智力迟钝的发生率为0.73%.，在女学生中为0.48%.。总患病率为0.61/1000。14个家庭的遗传和细胞遗传学分析确定在一个公正的方式表明，预期的50%的比例受影响的未受影响的亲属被打乱，可能的结果分离失真。
A clinical and cytogenetic study of children attending schools for the educationally handicapped has been carried out in the City of Coventry. As a result of this an estimate of the population incidence of the Martin-Bell syndrome among schoolchildren has been made. Among school-boys the incidence of mental retardation due to the fra (X) was found to be 0.73 per 1000 and among schoolgirls 0.48 per 1000. The overall prevalence is 0.61 per 1000. Genetic and cytogenetic analysis of 14 families ascertained in an unbiased manner showed that the expected 50% ratio of affected to unaffected relatives was disturbed, the possible result of a segregation distortion.