Riddle J E, Cheema A, Sobesky W E, Gardner S C, Taylor A K, Pennington B F, Hagerman R J
Children's Hospital, Denver, USA.
Am J Ment Retard. 1998 May;102(6):590-601. doi: 10.1352/0895-8017(1998)102<0590:piifwt>2.0.co;2.
Fragile X syndrome is the most common from of inherited mental retardation. Approximately half of females with the full mutation have significant cognitive deficits, whereas females with the premutation do not. Phenotypic effects seen in 281 females (IQs from 64 to 139) were analyzed. Results showed that females with the full mutation differ significantly from controls on selected anthropometric measurements, physical index score, and various behavioral features. Females with the premutation differed significantly from controls in regards to a few anthropometric measurements and the physical index score but not in behavioral features. These results suggest that phenotypic effects of the FMR1 mutation are not only common in females with the full mutation, but in females with the premutation as well.
脆性X综合征是遗传性智力迟钝最常见的形式。大约一半具有完全突变的女性有明显的认知缺陷，而具有前突变的女性则没有。对281名女性（智商从64到139）的表型效应进行了分析。结果显示，具有完全突变的女性在选定的人体测量指标、身体指数得分和各种行为特征方面与对照组有显著差异。具有前突变的女性在一些人体测量指标和身体指数得分方面与对照组有显著差异，但在行为特征方面没有。这些结果表明，FMR1突变的表型效应不仅在具有完全突变的女性中常见，在具有前突变的女性中也常见。
