深圳儿童染色体异常核型变迁情况分析  

Analysis of chromosome abnormality changes in children in Shenzhen

作　　者：肖伟伟[1] 周雪纯 崔冬[3] 黄娟[1] 刘伟[1] 黎兵 唐根[3] 张民[3] 陈运生[1] Xiao Weiwei;Zhou Xuechun;Cui Dong;Huang Juan;Liu Wei;Li Bing;Tang Gen;Zhang Min;Chen Yunsheng(Laboratory Department of Shenzhen Children′s Hospital,Shenzhen 518034,China;School of Medical Laboratory,Chongqing Medical University,Chongqing 400042,China;Pediatrics Research Institute of Shenzhen Children′s Hospital,Shenzhen 518034,China)

机构地区：[1]深圳市儿童医院检验科,深圳518034 [2]重庆医科大学检验医学院,重庆400042 [3]深圳市儿童医院儿科研究所,深圳518034

出　　处：《国际遗传学杂志》2023年第5期337-342,共6页International Journal of Genetics

基　　金：广东省高水平医院建设专项经费。

摘　　要：目的通过回顾儿童G显带染色体核型结果来观察异常核型的变化趋势。方法收集2003年1月1日-2021年12月31日在深圳市儿童医院行G显带染色体核型分析的患儿资料, 总结18年中儿童的染色体异常核型检出率、类型及年度变化趋势。结果在13 709例入选儿童中, 共检出染色体异常1 557例, 检出率为11.4%, 以21三体为主(占58.4%)。2001-2020年间出生的儿童, 染色体总异常率和21三体异常率均呈下降趋势, 21三体异常率在2008年首次降至10%以下, 2016年后稳定在2.5%左右。除2018年外, 染色体异常核型均以21三体为主;性染色体异常占比虽有波动, 但无整体下降或升高趋势;Turner综合征占比均高于或等于Klinefelter综合征。结论深圳儿童染色体异常不论从检测年份看还是从出生年份看均呈下降趋势, 21三体下降尤为明显。Objective To observe the changing trend of abnormal karyotypes by analyzing the G-banding chromosome analysis results in children.Methods The data of children who underwent G-banding chromosome analysis in Shenzhen Children’s Hospital from January 1,2003,to December 31,2021,were collected,the detection rate,type,and annual change trend of abnormal chromosome karyotypes of children in 18 years were summarized.Results Among 13709 selected children,1557 cases of chromosome abnormalities were detected,with a detection rate of 11.4%,and the majority of them were trisomy 21(58.4%).For children born between 2001 and 2020,the chromosome abnormality rate and trisomy 21rate showed a downward trend.In 2008,the trisomy 21 detection rate fell below 10%for the first time.After 2016,the rate of trisomy 21remained stable at about 2.5%.Except for 2018,trisomy 21 is the most common abnormal chromosome karyotype;although the percentage of sex chromosome abnormalities fluctuated,there was no trend of decline or increase;the proportion of Turner syndrome was higher than or equal to that of Klinefelter syndrome.Conclusion The chromosome abnormality of children in Shenzhen shows a downward trend both from the year of detection and from the year of birth,especially the decrease in trisomy 21.

关 键 词：染色体异常 G显带染色体核型分析 21三体(T21) TURNER综合征 Klinefelter综合症 

分 类 号：R725.9[医药卫生—儿科] R440[医药卫生—临床医学]