Annotation: fragile X syndrome: advances and controversy.
Annotation: fragile X syndrome: advances and controversy.
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注释：脆性 X 综合征：进展与争议。
DOI：
10.1111/j.1469-7610.1992.tb00933.x
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发表时间：
1992
期刊：
影响因子：
--
通讯作者：
Hagerman,RJ
中科院分区：
文献类型：
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作者：
Hagerman,RJ
脆性X综合征(FXS)约占所有形式的X连锁精神发育迟滞(MNR)的30%。早期的报告集中在最严重智力低下的人身上，并确定了与自闭症的显著联系。然而，进一步的研究扩大了临床参与的范围，包括少数男性和轻度影响女性的无MNR的学习障碍。也有证据表明，携带者或受轻度影响的杂合子女性易患精神病理学，包括抑郁症和分裂型特征。FXS的诊断和表型，以及脆性X基因的传递，高功能脆性X男性，杂合子，FXS与自闭症的关系，以及治疗。
Fragile X syndrome (FXS) is responsible for approximately 30% of all forms of X-linked mental retardation (MNR). Early reports focused on the most severely retarded individuals and identified a significant association with autism. However, further studies have broadened the spectrum of clinical involvement to include learning disabilities without MNR in a few males and in mildly affected females. Evidence also exists for a predisposition to psychopathology including depression and schizotypal features in carriers or mildly affected heterozygous females. The diagnosis and phenotype of FXS are described as well as the transmission of the fragile X gene, high functioning fragile X males, heterozygotes, the relationship of FXS with autism, and treatment.(PsycInfo Database Record (c) 2022 APA, all rights reserved)