Dr Gina Gómez, from the National Autistic Society, said research into fragile X syndrome could help understanding of certain aspects of autism.
全国自闭症协会的Gina Gómez博士认为对于脆性X综合症的研究有助于理解自闭症的某些方面。
They were aggressive, slow learners, and kept convulsing in seizures-classic signs of Fragile X syndrome.
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。
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.
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。
We hope and expect that, like other developmental disorders such as Fragile X syndrome, the use of mouse models will lead directly to clinical trials that can benefit patients.
我们希望并期待其他发育障碍,如x染色体脆弱症。老鼠试验能够帮助进行对有益于病人的临床试验。
Dr Gina gomez DE la Cuesta, from the National Autistic Society, said research into fragile X syndrome could help understanding of certain aspects of autism.
全国孤独症协会的GinagomezdelaCuesta博士认为对于脆性X综合症的研究有助于加深对孤独症的了解。
Conclusion the parents with mentally retarded students knew little about the fragile X syndrome, but whose acceptability of screening was high.
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。
Objective: to establish an efficient method to detect fragile X chromosome syndrome (FraX) by optimizing PCR amplifying condition.
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。
Further research of this method will introduce a more simple and rapid method for detecting male patients with fragile X syndrome. This method may be used for general population screening.
这一方法的进一步研究,将使脆性X男性患者的诊断方法更加简单、快速,有可能用于大规模群体筛查。
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.
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。
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.
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.
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。
应用推荐