长春地区428例儿童遗传咨询者细胞遗传学临床分析

为了解儿童先天遗传性疾病的发病情况,对428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,428例患儿中染色体异常143例,异常检出率为33.41%,涉及异常核型20余种.143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21-三体综合征,其次为9号染色体异常、22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.

Clinical analysis of cytogenetics in 428 children of genetic councelling

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.