广东省2234例遗传咨询者染色体分析

目的探讨广东地区遗传性疾病染色体异常分布情况,指导临床对遗传性疾病诊断,减少遗传性疾病的发生。方法对广东地区2234例遗传咨询者,采用淋巴细胞培养染色体常规G显带法进行观察研究。结果2234例遗传咨询者共检出异常核型238例,异常率10.65%,其中Down综合征113例(47.48%),易位25例(10.50%),倒位47例(19.75%),克氏综合征11例(4.62%),Turner综合征10例(4.20%),性逆转综合征9例(3.78%);染色体缺失7例,衍生染色体6例,18(13)-三体共4例,X-三体综合征2例,其他染色体异常4例。结论染色体畸变是儿童智力低下,成人不孕不育、流产,性征异常的一个重要原因,要实现优生优育,必需积极开展遗传咨询,产前检查和产前诊断。

Karyotype analysis of 2234 cases heredity consultants from Guangdong province

Objective: To investigate the distributing status of hereditary chromosome diseases and in Guangdong, provide information for clinic making diagnoses of hereditary diseases and reduce hereditary diseases.Methods:2234 cases of patients collected from heredity consultants clinic of various region hospital in Guangdong were detected by lymphocyte chromosome G-banding method in peripheral blood. Results: The results shown that all of the 238(10.65%) in 2234 cases of patients from heredity consultants clinic were abnormal karyotypes. Among 113 cases (47.48%) are Down syndrome,25(10.50%) cases are translocations, 47 (19.75%)cases are inversion, 11(4.62%) cases are Klinefelter's syndromes,10(4.20%)cases are Turner's syndromes,9(3.78%) cases are sexual reversion syndromes,7 cases are deletion chromosomes,6 cases are derivative chromosomes,4 cases are 18(13)-trisomy, 2 cases are X-trisomy and 4 cases other abnormal karyotypes. Conclusion:Chromosome abnormalities are the important cause children amentia as well as sterility and miscarriage in adults,and so that developing the heredity consultation, making prenatal detection and prenatal diagnoses for intervention.