Lastochkina N A, Kupriianova T A, Puchinskaia L M, Marincheva G S, Gor'kova S A
Zh Nevropatol Psikhiatr Im S S Korsakova. 1992;92(4):28-31.
Overall 21 women, heterozygous carriers of fragile X-chromosome (7 cases of obligate carriership and 14 sporadic cases) were examined by electroencephalography and cytogenetically. In none of them the clinical examination revealed a typical somatic appearance characteristic of Martin-Bell syndrome. Certain somatic disorders, psychasthenic traits, tearfulness and uncommunicativeness were recorded in single cases. The level of intellectual development corresponded to the low norm. Analysis of the EEG has demonstrated that in 76% of the women examined, the character of alpha-rhythm differed from normal. According to its intensity, three variants of the EEG were distinguished. In the majority of women, the EEG manifested the signs of the dysfunction of the diencephalic structures and not gross focal alterations. The character of the EEG does not provide any data which may be of diagnostic importance in revealing heterozygous carriership of fragile X-chromosome.
对总共21名脆性X染色体杂合携带者女性（7例确定携带者和14例散发携带者）进行了脑电图和细胞遗传学检查。临床检查未发现她们中有任何一人具有典型的马丁-贝尔综合征的躯体外观特征。个别病例记录有某些躯体疾病、精神衰弱特质、易流泪和不爱交流。智力发育水平处于低正常范围。脑电图分析表明，76%接受检查的女性，其α波节律特征与正常情况不同。根据其强度，区分出脑电图的三种变体。大多数女性的脑电图表现出间脑结构功能障碍的迹象，而非明显的局灶性改变。脑电图特征未提供任何对揭示脆性X染色体杂合携带者具有诊断意义的数据。
