630例遗传咨询者的细胞遗传学研究

A cytogenetic study of 630 patients for genetic counseling

本文自１９８８年１月至１９９２年１２月，对遗传咨询者疑有染色体异常进行了外周血染色体核型分析，检出染色体异常６３例，占受捡人数的１０％。其中常染色体数目异常４例，占异常染色体６．３％；常染色体结构异常２０例，占３１．７％；性染色体数目异常２６例，占４１．３％；常染色体结构异常同时伴有性染色体数目异常１例，占１．６％；染色体变异５例，占７．９％；大Ｙ染色体７例，占１１．１％。异常核型涉及的染色体有２、３、４、５、７、８、９、１１、１２、１３、１４、１５、１７、１８、２１、２２、Ｘ、Ｙ，共１８条。

From January 1988 to December 1992,we hare investigated the chromosome caryotype in the blood of 630patients who were suspected to be abnormal chromosomes and 63 patients with abnormal chromosomes have been found out.The abnormal rate in 10%,4 patients have abnormal autosome number and they are 6.3% of the abnormal chromosomes、20 patients are abnormal autosome construction and the rate is 31.7%、26 patients are abnormal sex chromo some number and the rate is 41.4%、one patient is abnormal autosome construction and sex chromosome number.and the rate is 1.6%; 5 patients are chromosomal aberration and the rate is 7.9%;7 patients are superY chromosome and the rate is 11.1%,Abnormal caryotype involred 2、3、4、5、7、8、9、11、12、13、14、15、17、18、21、22、X、Y chromosome.The cases of chromosome balanced translocation、male sterility、super-Y chromosome and chromosome heteromorphism have been analysed.