首页> 外文期刊>American journal of medical genetics, Part A >A MAJORITY OF PARENTS ACCEPT NEWBORN SCREENING FOR FRAGILE X Prospect of mandatory state screening still an area ofdebate
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A MAJORITY OF PARENTS ACCEPT NEWBORN SCREENING FOR FRAGILE X Prospect of mandatory state screening still an area ofdebate

机译:众多父母接受脆性X的新生代筛查强制性状态筛查的前景仍然是一个有争议的领域

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摘要

The most common cause of inherited intellectual disabilities, FXS is an X-linked condition caused by a CGG expansion of more than 200 repeats in the FMR1 gene. Those repeats lead to reduction or absence of FMRP, a protein necessary for normal brain development and functioning. The result is a spectrum of psychological, neurological, and behavioral problems, including autism, anxiety, hyperactivity, and inattention.
机译:遗传性智力障碍的最常见原因是,FXS是X连锁状态,由CMR扩展FMR1基因中200多个重复引起。这些重复会导致FMRP减少或缺失,FMRP是正常大脑发育和功能所必需的蛋白质。结果是一系列心理,神经和行为问题,包括自闭症,焦虑症,活动过度和注意力不集中。

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