论文部分内容阅读
目的 总结 3 87例遗传咨询者染色体检查资料。方法 抽取外周血按湖南医科大学医学遗传学国家培训中心常规方法制备染色体标本 ,G显带 ,必要时C带、N带分析。结果 检出异常核型 2 1例 ,占 5 4 2 % ,约为正常群体值的 11倍 ,其中 3例经医学遗传学国家培训中心鉴定为世界首报核型。结论 染色体异常是不良孕产的重要原因之一 ,检出染色体异常携带者 ,对携带者进行产前诊断、早期发现染色体病对优生意义重大
Objective To summarize the chromosome examination data of 379 genetic counselors. Methods Peripheral blood was collected according to the routine methods of the National Medical Genetics Training Center of Hunan Medical University to prepare chromosome samples, G banding, and if necessary, analysis of the C band and N band. Results Aberrant karyotype was detected in 21 cases, accounting for 542.2%, which was about 11 times of the normal population value. Among them, 3 cases were identified as the world’s first reported karyotype by the National Medical Genetics Training Center. Conclusion Chromosomal abnormalities are one of the important causes of poor motherhood. Detecting carriers of chromosomal abnormalities, carrying out prenatal diagnosis for carriers and early detection of chromosomal disorders are of great significance for eugenics.