1276例遗传咨询者病因及外周血染色体分析

本文对1276例遗传咨询病人的外周血淋巴细胞做G显带(必要时再做C带)染色体分析,检出异常核型93例,占7.29％。其中就诊原因以不良孕产史为主,占61.9％,核型异常率为2.79％。其它依次为原发不孕育,智力低下及发育迟缓,原发闭经,生殖器畸形及发育异常,各占27.3％,6.65％,2.19％,1.96％;其核型异常率分别为4.02％,51.8％,35.7％,12.0％。

The chromosome studies in 1276 genetic connseling.

Objective: To investigate the relationship between clinical indications in genetic counseling and chromosome abnormalities. Methods:Analysis for chromosome karyorype was peformed on peripheral blood lymphocytes from 1276 patients in genetic counseling. Results: Abnormal chromosome karyotypes were found in 93 cases of all 1276 patients accounting for 7.29% of the totle. In the clinical indications for chromosome checking , 790(61.9%) cases were adverse pregnancy, chromosome abnormalities 22( 2.79% ). The others were primary infertility .dysgnosis and hypoevolutism, primary amenorrhea, dysgenitalism, the proportion was 27.3% , 6.65% , 2.19% , 1.96% , respectively, chromosome abnormalities accounted for 4.02%, 51.8%, 35.7%, 12.0%, respectively. Conclusion: Chromosome checking in genetic counseling for clinical indications is recommended.