Reiss A L, Freund L, Vinogradov S, Hagerman R, Cronister A
Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD.
Am J Hum Genet. 1989 Nov;45(5):697-705.
Studies of adult female carriers of the fragile X chromosome indicate that certain psychological problems occur with a greater frequency and severity than expected. This study examines the association of parental origin of the fragile X chromosome and of fragility detected in the karyotype with measures of social, educational, and psychological functioning in a group of adult fragile X females of normal intelligence. The results show that, as a group, women who inherit the fragile X chromosome from their mother and who demonstrate positive fragility in the karyotype (MI+ group = [maternal inheritance with positive fragility]) manifest significantly more impairment of social, educational, and psychological functioning when compared with fragile X females with paternal inheritance or negative fragility or with a matched control group comprising non-fragile X women. In particular, MI+ women show lower levels of both educational achievement and socioeconomic status and a greater degree of disturbance in communication, socialization, affect, and thought processes. These clinical findings are consistent with the recently advanced hypothesis which proposes that a two-stage process leading to chromosome imprinting in a preoogonial cell causes the fragile X syndrome.
对成年脆性X染色体女性携带者的研究表明，某些心理问题出现的频率和严重程度高于预期。本研究调查了脆性X染色体的亲本来源以及核型中检测到的脆性与一组智力正常的成年脆性X女性的社会、教育和心理功能指标之间的关联。结果显示，作为一个群体，从母亲那里继承脆性X染色体且在核型中表现出阳性脆性的女性（MI+组 = [具有阳性脆性的母系遗传]）与具有父系遗传或阴性脆性的脆性X女性或由非脆性X女性组成的匹配对照组相比，在社会、教育和心理功能方面表现出明显更多的损害。特别是，MI+女性的教育成就和社会经济地位较低，在沟通、社交、情感和思维过程方面的干扰程度更大。这些临床发现与最近提出的假说一致，该假说认为，导致前卵原细胞中染色体印记的两阶段过程会引发脆性X综合征。
