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在轻度智障学校就读的患有脆性X染色体的儿童。

Children with the fragile X chromosome at schools for the mildly mentally retarded.

作者信息

Thake A, Todd J, Webb T, Bundey S

机构信息

Clinical Genetics Unit, Birmingham Maternity Hospital, Edgbaston.

出版信息

Dev Med Child Neurol. 1987 Dec;29(6):711-9. doi: 10.1111/j.1469-8749.1987.tb08815.x.

Abstract

An investigation of children in schools for the moderately mentally handicapped in Coventry demonstrated that 29 of 259 children had a significant chromosomal abnormality. 10 of 155 boys (6 per cent) and 10 of 104 girls (10 per cent) had the fragile X syndrome. The clinical features which suggested this syndrome in males were IQ in the 50 to 70 range, head circumference greater than the 50th centile and post-pubertal testicular volume greater than the 50th centile. For both males and females, large ears were a useful sign. All children with fragile X had a carrier parent. The occurrence of mental retardation among sibs was one in two for brothers and one in four sisters. Considering all the males with fragile X syndrome resident in Coventry (this and previous studies), there were twice as many in schools for the moderately mentally handicapped as there were in schools for the severely mentally handicapped. There were as many females as males in the schools for the moderately mentally handicapped.

摘要

对考文垂中度智障儿童学校的一项调查显示,259名儿童中有29名存在明显的染色体异常。155名男孩中有10名(6%)以及104名女孩中有10名(10%)患有脆性X综合征。男性中提示该综合征的临床特征为智商在50至70之间、头围大于第50百分位以及青春期后睾丸体积大于第50百分位。对于男性和女性而言,大耳朵都是一个有用的体征。所有脆性X患儿都有一位携带者家长。脆性X患儿的同胞中,兄弟患智力迟钝的几率为二分之一,姐妹为四分之一。考虑到居住在考文垂的所有患有脆性X综合征的男性(本次及以往研究),中度智障儿童学校中的人数是重度智障儿童学校中的两倍。中度智障儿童学校中男女数量相同。

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