2269例细胞遗传学研究

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。

Study on cytogenetics of 2269 cases

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.