2269例细胞遗传学研究  

Study on cytogenetics of 2269 cases

作　　者：吕菊香[1] 张月萍[1] 徐建忠[1] 宋益华 

机构地区：[1]上海医科大学妇产科医院

出　　处：《现代妇产科进展》1995年第3期235-237,共3页Progress in Obstetrics and Gynecology

摘　　要：总结Ｔ２２６９例的细胞遗传学资料，发现染色体异常３１０例，总异常率为１３，６６％。各组中智力低下的染色体异常率最高，占４４．４４％，大多为２１三体；男、女生殖缺陷的染色体异常率次之，分别为２７．７８％和３５．８１％，主要为性染色体异常；流产及异常生育史的染色体异常率最低，分别为４，１４％和１．１０％，主要为常染色体平衡易位。提示细胞遗传学检查对上述疾病的早期诊断和早期治疗有重要意义。Chromosoines of 2269 cases with different diseases were examined and abnormalities were found in 310 cases. The frequency of error was 13.66% in total.Mental retardation held the highest abnormal rate of 44.44%.Most of them were 21 trisomy.The abnormal rates of male and female reproductive deficiency were 27.78% and 35.81% respectively. Sex chromosomal abnormality was the chief karyotype of this group. The abnormal rates of abortion and abnormal pregnancy and offspring were 4.14% and 1.10% respectively.Most of them were autosomal translocation. The findings suggest that cytogenetic analysis has great value on early diagnosis and early treatment of diseases listed above.

关 键 词：细胞遗传学 染色体异常 

分 类 号：Q343[生物学—遗传学]