论文部分内容阅读
应用FUdR及Caffein诱导方法检出两家族共8例脆性X综合征患者,4例携带者。指出,智力低下伴多动、大耳朵及不明原因的癫病发作是青春期前患者进行脆性X检查的临床指征。
A total of 8 patients with fragile X syndrome and 4 carriers were detected in the two families using FUdR and Caffein induction methods. Pointed out that mental retardation with hyperactivity, large ears and unexplained epilepsy attacks are pre-adolescent patients with clinical indications of Fragile X-check.