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目的对近4年来收集的305例唐氏综合征(Down’s syndrome,DS)患者进行细胞生物学检查,分析其核型,对患者父母进行一般调查,结合细胞生物学分析,探讨其可能发病原因。方法采患者外周血淋巴细胞培养,做常规染色体G带处理后进行核型分析。结果经过对确诊的305例DS患者的染色体进行细胞遗传学分析,发现三种DS患者均有检出(21-三体型82.62%;易位型15.74%;嵌合型1.64%),且与双亲工作环境和母亲生育年龄有一定的相关性。结论通过开展细胞遗传学分析,可以比较精确的检出DS,同时对于DS的高危人群,应尽早进行相关教育和检查,从根本上减少DS的发病风险。
Objective To investigate the karyotype of 305 Down’s syndrome (DS) patients collected in the recent 4 years and analyze their karyotypes. A general survey of parents of the patients was carried out. Combined with the cell biology analysis, the possible causes of the disease were analyzed. Methods Peripheral blood lymphocytes were collected and analyzed by conventional G-banding. Results After the cytogenetic analysis of the chromosomes of the 305 confirmed cases of DS, it was found that all three DS patients were detected (82.62% for 21-trisomy, 15.74% for translocation and 1.64% for chimerism) Working environment and mother’s reproductive age have some relevance. Conclusion Through the cytogenetic analysis, DS can be detected more accurately, and at the same time for the high-risk groups of DS, relevant education and examination should be carried out as early as possible to fundamentally reduce the risk of DS.