遂宁地区335例遗传咨询者外周血染色体核型分析  

Chromosome karyotype analysis in the peripheral blood of 335 genetic counseling cases

作　　者：张传英[1] 赵咏梅[1] 孟君[1] 

机构地区：[1]遂宁市中心医院检验科,四川遂宁629000

出　　处：《中国优生与遗传杂志》2014年第7期49-50,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的对遗传染色体病高危人群进行外周血染色体核型分析。方法选取高危的遗传咨询人员335例,进行外周血培养,细胞收获制片,G显带核型分析。结果 335例有染色体病高危因素的遗传咨询者中检查出染色体异常112例,占33.4%,染色体异常患者中,唐氏综合征所占比例最高39例(35%)。结论对遗传染色体病高危人群进行染色体检查意义重大。在染色体异常中尤其以唐氏综合征比例最高,在我地区全面开展产前筛查与产前诊断工作更显意义重大。Objective： To analysis the chromosome karyotype in the peripheral blood of high risk group with chromosomal disorder. Methods： Cytogenetics examination was made in the high risk genetic counseling cases by means of peripheral blood chromosomes culture, cell harvesting and smear, and giemsa banding karyotyping analysis. Results： Among 335 cases with the high risk factor of the chromosome disease, totally abnormal chromosome karyotype were 112 cases （33.4%） , in which the incidence rate of Down＇ s syndrome was the highest and add up to 39 （35%） . Conclusion： The incidence rate of chromosomal abnormalities-especially Down＇ s syndrome was very high in the high risk group, thus it is of great significance to carry out a comprehensive work including prenatal screening and prenatal diagnosis in Suining region.

关 键 词：遗传咨询 染色体检查 核型分析 高危人群 唐氏综合征 

分 类 号：R596.1[医药卫生—内科学]