他们表现的很具有进攻性,学习缓慢,并在发作时持续抽搐——脆性X综合征的典型迹象。
They were aggressive, slow learners, and kept convulsing in seizures-classic signs of Fragile X syndrome.
脆性X综合征,一个X染色体上的基因突变,是遗传性智力障碍最常见的来源,每4000名男孩和每6000名女孩中就有一名儿童患有该症。
Fragile X syndrome, a single genetic mutation on the X chromosome, is the most common source of inherited mental impairment, affecting one in every 4,000 boys and one in every 6,000 girls.
脆性X综合征,一个X染色体上的基因突变,是遗传性智力障碍最常见的来源,每4000名男孩和每6000名女孩中就有一名儿童患有该症。
Fragile X syndrome, a single genetic mutation on the X chromosome, is the most common source of inherited mental impairment, affecting one in every 4, 000 boys and one in every 6, 000 girls.
结论培智学校学生家长对脆性X综合征的了解很少,但对此病的高危筛查接受性高。
Conclusion the parents with mentally retarded students knew little about the fragile X syndrome, but whose acceptability of screening was high.
目的:优化PCR扩增条件,建立一种有效检测脆性X综合征的方法。
Objective: to establish an efficient method to detect fragile X chromosome syndrome (FraX) by optimizing PCR amplifying condition.
目的:探讨脆性X综合征对先天智力低下儿童病因学诊断的重要性。
Objective:To find out the significance of fragile X mental retardation on diagnostic etiology of inherent mental retardation(MR).
结果表型,病理心理和分子遗传学分析的53个渊源与临床特征的脆性X综合征和10名女性运营商提出。
Results of phenotypical, patho-psychological and molecular-genetic analysis of the 53 probands with clinical features of the fragile X syndrome and 10 female carriers are presented.
运用PCR -序列分析胶银染法快速、直接、简便、实用,适合脆性X综合征的大规模群体筛查。
The PCR-Sequence gel silver staining was more rapid, immediate, simple and economy, which suits to the colony screening fragile X syndrome on a large scale.
家系先证者及其母亲,F家系先证者发现可疑脆性X染色体,分子遗传学检查证实为非脆性X综合征家系。
The probands of pedigrees E and F of the mother were found with suspicions fragile X chromosome, being confirmed as the non-fragile X pedigrees by the molecular genetic test.
以上结果表明,脆性X综合征的发病率在其他亚洲人群中也有所不同。
These findings suggest that there is a difference in the prevalence between other Asian populations.
以上结果表明,脆性X综合征的发病率在其他亚洲人群中也有所不同。
These findings suggest that there is a difference in the prevalence between other Asian populations.
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