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目的研究染色体易位与女性不良妊娠的关系。方法对2011年1月-2016年6月在我院妇产科就诊的1482例女性遗传咨询者行外周血染色体核型分析。结果 1482例女性遗传咨询者,共检出染色体平衡易位32例,占2.16%,其中非同源罗伯逊平衡易位16例,同源罗伯逊平衡易位4例,相互平衡易位12例,临床表现主要为流产、不育、死胎和21三体患儿及畸形儿生育史等。染色体易位携带者,其自然流产发生率、因胎儿畸形或者染色体异常引产发生率、生育21唐氏综合征患儿发生率和胎儿染色体平衡易位发生率明显高于正常对照人群。结论染色体易位是导致女性流产、胎儿畸形或者胎儿染色体异常的重要原因之一。
Objective To study the relationship between chromosomal translocation and adverse pregnancy in women. Methods From January 2011 to June 2016 in our hospital Obstetrics and Gynecology treatment of 1482 female genetic counselors line of peripheral blood karyotype analysis. Results A total of 1482 female genetic counselors were detected in 32 cases, accounting for 2.16%. Among them, 16 cases of non-homologous Robertson equilibrium translocation, 4 cases of homologous Robertson equilibrium translocation, 12 cases of equilibrium translocation and 12 cases of clinical The main manifestations of abortion, infertility, stillbirth and trisomy 21 children and deformed children fertility history. Chromosomal translocation carriers, the incidence of spontaneous abortion, due to fetal malformation or chromosomal abnormalities, the incidence of induced labor, child-bearing children with Down Syndrome 21 incidence and fetal chromosomal equilibrium translocation occurred significantly higher than the normal control population. Conclusion Chromosomal translocation is one of the important causes of miscarriage, fetal malformation or fetal chromosomal abnormalities in women.