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目的探讨育龄夫妇中平衡易位携带者的细胞遗传学效应。方法采用常规外周血淋巴细胞培养,常规G显带技术进行核型分析。结果271对受检者中,检出平衡易位携带者15例(占受检人数2.8%),其中相互易位9例(占异常之60%),非同源罗伯逊易位5例(占异常之33%),同源罗伯逊易位1例(占异常之7%)。检出平衡易位携带者中,男性为8例(占异常之53%),女性为7例(占异常之47%)。结论本室检出育龄夫妇中男、女性平衡易位携带者人数大约相等;应加强平衡易位携带者的检出,做好患者本人及其亲属的遗传咨询。
Objective To investigate the cytogenetic effect of balanced translocation carriers in couples of childbearing age. Methods routine peripheral blood lymphocyte culture, conventional G banding karyotype analysis. Results Among the 271 subjects, 15 cases (2.8%) were found to have balanced translocations, among which 9 cases (60%) had translocation, 5 cases had non-homologous Robertsonian translocation Abnormal 33%), homologous Robertson translocation in 1 case (accounting for 7% of the abnormal). Of the carriers with balanced translocations detected, 8 were male (53% of abnormal) and 7 were female (47% of abnormal). Conclusions This study found that the number of balanced translocation carriers in men and women of childbearing age was approximately equal. The detection of carriers with balanced translocation should be strengthened and the genetic counseling of patients and their relatives should be done well.