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2269例细胞遗传学研究

Study on cytogenetics of 2269 cases
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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.
出处 《现代妇产科进展》 CSCD 1995年第3期235-237,共3页 Progress in Obstetrics and Gynecology
关键词 细胞遗传学 染色体异常 Cytogenetics Chromosomal abnormality Mental retardation Reproductive deficiency Abortion Abnormal pregnancy
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