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目的:对贵州省222例唐氏综合征患者进行细胞遗传学分析,减少唐氏综合征患儿出生。方法:询问病史、体格检查、抽取静脉血进行淋巴细胞培养,中期染色体制片、G显带处理,每例患者镜下计数30个核型,分析核型3个以上,对异常者加大计数和分析量,并按人类细胞遗传学国际命名体制(ISCN,1985)的标准命名。结果:唐氏综合征者中单纯型占92.35%、易位型占4.05%、嵌合型占2.25%,合并其他染色体异常者占1.35%。结论:细胞遗传学检测是确诊唐氏综合征患儿的可靠方法,针对高龄或有不良因素接触史的孕妇加强孕前优生遗传咨询,进行产前筛查和产前诊断,及时了解胎儿染色体异常情况,对减少唐氏综合征患儿出生有着极其重要的意义。
Objective: To analyze the cytogenetic analysis of 222 Down Syndrome patients in Guizhou Province, and to reduce the birth of children with Down’s syndrome. Methods: History, physical examination, venous blood were collected for lymphocyte culture, metaphase chromosome preparation and G-banding treatment. Each patient underwent microscopic counting of 30 karyotypes and analyzed more than 3 karyotypes, and increased the number of abnormalities And the amount of analysis, according to the standard of the International Naming System for Human Cytogenetics (ISCN, 1985). Results: The haplotypes of Down syndrome accounted for 92.35%, translocation accounted for 4.05%, chimerism accounted for 2.25%, and other chromosomal abnormalities accounted for 1.35%. CONCLUSIONS: Cytogenetics is a reliable method for diagnosing Down Syndrome in children. For pregnant women who have history of exposure or unfavorable factors, genetic counseling for prenatal eugenics should be strengthened, prenatal screening and prenatal diagnosis should be conducted to understand fetal chromosomal abnormalities in time , To reduce the birth of children with Down’s syndrome has an extremely important significance.