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225例生殖发育异常者细胞遗传学分析

Cetogenetic analysis on 225 cases with heteroplasia
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摘要 目的 分析就诊原因与染色体异常之间的关系 ,对临床诊断有辅助作用。方法 检测 2 2 5例因智力低下或发育异常前来就诊的患者 ,外周血淋巴细胞培养 ,G显带核型分析。结果 检查出核型改变的有 38例 ,占16 .89% ,其中 13例属多态性变化 ,除去正常变异 ,仍有 2 5例异常核型 ,占 11.11% ,异常核型检出明显高于普通人群。结论 染色体疾病可导致智力低下 ,多种发育异常 ,不孕和不育 ,而且发病率在特定群体中高 。 Objective To study the relation between the reason to see the doctor and chromosome abnormality, and the reason causing this chromosome abnormality and function in clinical work. Methods Two hundred and twenty five patients of mental retardation or heteroplasia were tested. Constitutional blood lymphocyte culture, harvest, slides, G banding and analysis were used. Results There were 38 (16.89%) abnormal chromosome karyotypes, in which normal variable chromosome were 13 cases. Abnormal chromosome outcome were noted in 25 cases (11.11%). The abnormal chromosome karyotypes are higher than the normal population.Conclusion The chromosome disease can lead to mental retardation, heteroplasia, and infertility. The incidence of the disease is higher among the special popultion, so the patients need early diagnosis.
出处 《哈尔滨医科大学学报》 CAS 2003年第3期239-241,共3页 Journal of Harbin Medical University
关键词 生殖发育异常 细胞遗传学 分析 不育 染色体异常 智力低下 mental retardation heteroplasia infertility abnormal chromosome
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