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目的探讨智力低下患者的细胞遗传学原因及预防。方法采用外周血淋巴细胞72h培养及染色体常规制备方法,G显带技术进行染色体核型分析。结果 102例智力低下患者中检出异常染色体核型65例,检出率63.7%。其中染色体数目异常为63例,占异常核型的95.4%,而结构异常为2例。结论染色体核型异常时导致智力低下的重要原因之一,产前筛查及诊断是预防智力低下患儿出生的最有效方法。
Objective To investigate the cytogenetics and prevention of mental retardation. Methods 72h culture of peripheral blood lymphocytes and routine preparation of chromosomes, G banding technique for karyotype analysis. Results Of the 102 patients with mental retardation, 65 cases of abnormal karyotype were detected, the detection rate was 63.7%. The number of chromosome abnormalities in 63 cases, accounting for 95.4% of anomalous karyotype, and structural abnormalities in 2 cases. Conclusion One of the important causes of mental retardation in abnormal karyotype is prenatal screening and diagnosis. Prenatal screening and diagnosis are the most effective methods to prevent the birth of children with mental retardation.