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目的:为了探讨脆性X综合征特征及简便、快速的检测方法。方法:对不明原因智力低下和癫痫伴智力低下患者共1023例家系进行了细胞遗传学和分子生物学检查。结果:检出脆性X染色体阳性98例,检出率为9.6%,其中产前诊断4例阳性。临床特征观察,除一般临床表现外发音缺陷,行为异常,家系调查在该征患者27例中有9例癫痫发作,发生率为33.33%。结论:临床特征结合分子生物学检查可用于脆性X综合征的筛查、诊断及产前诊断,是防止患儿出生的重要手段。
Objective: In order to investigate the characteristics of brittle X syndrome and its simple and rapid detection method. Methods: A total of 1023 pedigrees with unexplained mental retardation and epilepsy with mental retardation were examined by cytogenetics and molecular biology. Results: Fragile X chromosome was detected in 98 cases, the detection rate was 9.6%, of which 4 cases of prenatal diagnosis was positive. Clinical features observed, in addition to the general clinical manifestations of pronunciation defects, abnormal behavior, pediatric investigation in the 27 patients with symptoms of seizures in 9 cases, the incidence was 33.33%. Conclusion: Clinical characteristics combined with molecular biology tests can be used for screening, diagnosis and prenatal diagnosis of Fragile X syndrome. It is an important means to prevent the birth of children.