吉林地区102例21三体综合征的细胞遗传学分析

Cytogenetic Analysis with 102 Cases of Trisomy 21 Syndrome in Jilin

目的分析21三体综合征患者的染色体核型及发病率,推断染色体异常与疾病之间的关系。方法应用染色体常规制备方法进行外周血常规培养、制片,采用染色体G显带等细胞遗传学方法对吉林地区7 881例患者的外周血染色体进行检测。结果送检的7 881例患者中,染色体异常人数为511,异常率为6.48%,其中21三体综合征患者为102例,占比为19.96%。102例确诊21三体综合征患者中,单纯型99例,易位型1例,嵌合型2例。结论 21三体综合征是新生儿染色体病里发病率最高的一种染色体病,是一种影响新生儿发育异常的至关重要的染色体疾病。

Objective To analyze the karyotype and incidence of chromosome in patients with trisomy 21 syndrome,and the relationship between chromosome abnormality and disease was deduced. Methods The peripheral blood chromosomes of 7 881 patients in Jilin area were detected by cytogenetic methods,such as routine chromosome preparation,routine peripheral blood culture,and chromosome G banding. Results Among the 7 881 patients who received the examination,the number of chromosomal abnormality was 511,and the abnormal rate was 6.48%. Of the 511 patients with chromosomal abnormalities,102 cases were 21 trisomy syndrome,and 20% in 511 cases of all chromosomal abnormalities. Among 102 patients diagnosed with trisomy 21,there were 99 cases of simple type,1 cases of translocation,and 2 cases of chimeric type. Conclusion Trisomy 21 syndrome is a chromosomal disease with the highest incidence in neonatal chromosomal diseases,and it is an important chromosomal disease that affects the development of newborns.