Kupriianova T A, Gor'kova S A, Marincheva G S
Zh Nevropatol Psikhiatr Im S S Korsakova. 1991;91(8):49-53.
A total of 368 patients aged 1 year 11 months to 35 years with oligophrenia were examined cytogenetically. Out of 58 boys with a typical disease picture, the fragile X chromosome (fra-X) was revealed in 57. In all the cases, the syndrome could be diagnosed clinically before chromosomal analysis was made. In a group of children with undifferentiated oligophrenia including those with the sex-linked inheritance type, fra-X was not discovered. Besides, the fragile X chromosome was revealed in 4 girls. Of these, 3 were probands' sisters and one case was sporadic. The girls manifested both symptomatology typical for Martin-Bell syndrome and nonspecific mental retardation. Another 55 probands' relatives were examined clinically and cytogenetically. The fra-X was discovered in 9 mothers of the patients. The mean IQ in the women with the revealed fragile X chromosome was much lower than the mean IQ of all the women, mothers of the sick children. It is concluded that in spite of a wide range of the variability of somatic and psychopathological disorders in patients with Martin-Bell syndrome, the possibility of the clinical diagnosis of the disease without making cytogenetic studies attains as much as almost 100%. Symptoms, specific for the clinical diagnosis of the disease were distinguished.
对368名年龄在1岁11个月至35岁之间的智力低下患者进行了细胞遗传学检查。在58名具有典型病症的男孩中，57名发现了脆性X染色体（fra-X）。在所有病例中，在进行染色体分析之前即可临床诊断出该综合征。在一组包括具有性连锁遗传类型的未分化智力低下儿童中，未发现fra-X。此外，在4名女孩中发现了脆性X染色体。其中，3名是先证者的姐妹，1例为散发病例。这些女孩既表现出马丁-贝尔综合征的典型症状，也表现出非特异性智力发育迟缓。另外对55名先证者的亲属进行了临床和细胞遗传学检查。在9名患者的母亲中发现了fra-X。发现有脆性X染色体的女性的平均智商远低于患病儿童母亲的所有女性的平均智商。得出的结论是，尽管马丁-贝尔综合征患者的躯体和精神病理障碍存在广泛的变异性，但在不进行细胞遗传学研究的情况下临床诊断该病的可能性几乎达到100%。已确定了该疾病临床诊断的特异性症状。
