长春地区428例儿童遗传咨询者细胞遗传学临床分析  

Clinical analysis of cytogenetics in 428 children of genetic councelling

作　　者：邓琳琲[1] 刘愉[1] 凡荆[1] 包进[1] 郑丽芬[1] 程朱[1] 史淑萍[1] 刘亚萍[1] 

机构地区：[1]长春市儿童医院,130061

出　　处：《中国优生与遗传杂志》2005年第1期62-62,103,共2页Chinese Journal of Birth Health & Heredity

摘　　要：为了解儿童先天遗传性疾病的发病情况 ,对 4 2 8例患儿进行常规接种、培养及制备外周血淋巴细胞染色体G显带标本分析。结果表明 ,4 2 8例患儿中染色体异常 14 3例 ,异常检出率为 33.4 1% ,涉及异常核型 2 0余种。 14 3例异常染色体患者中常染色体异常 134例 ,性染色体异常 9例。在常染色体疾病中最常见的为 2 1-三体综合征 ,其次为 9号染色体异常、2 2号染色体异常。提示染色体核型分析是诊断染色体病以及检出携带者的主要方法。To explore the nosogenesis of congenital inherited diseases in children, the blood of 428 children were routinely inoculated and cultured in order to provide chromatosome of G-banding of lymphocyte in peripheral blood. The finding showed that there were 143 cases involving approximately 20 kinds of chromosomal aberration in 428 patients and the percentage was 33.41%. The number of anomaly of autosome was 134 cases and the anomaly of sex chromatosome was 9 cases. The first autosome diseases was Down syndome, the next were anomaly of chromatosome of 9 and 22 . The authors concluded that karyotype analysis is principal method to diagnosis chromosomal aberration syntramine and find the carrier of chromosomal disorder.

关 键 词：染色体病 异常染色体核型 21-三体综合征 

分 类 号：R394[医药卫生—医学遗传学]