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目的探讨染色体易位的遗传效应及染色体易位的临床分析和遗传咨询。方法采集外周血、羊水、脐血细胞培养,常规G显带技术进行核型分析。结果 2747例受检者中,共检出染色体平衡易位24例,其中相互易位10例,罗伯逊易位9例,还有羊水培养中5例相互易位的嵌合体。结论平衡易位携带是导致流产、死胎、死产、生育畸形儿的重要原因,要加强染色体平衡易位携带者的检出,做好携带者及家属的遗传咨询。
Objective To investigate the genetic effects and chromosomal translocations of chromosomal translocation clinical analysis and genetic counseling. Methods Peripheral blood, amniotic fluid, umbilical cord blood cell culture and routine G-banding technique were used for karyotype analysis. Results Among the 2747 subjects, 24 cases of chromosomal equilibrium translocation were detected, among which 10 were reciprocal translocations, 9 were Robertsonian translocations, and 5 were translocation chimeras in amniotic fluid culture. Conclusions Balanced translocation is the main reason leading to miscarriage, stillbirth, stillbirth and maternal malformation. It is necessary to strengthen the detection of chromosome balance translocation carriers and make genetic counseling among carriers and their families.