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目的研究罗伯逊易位与女性不良孕产史的关系。方法对2008年6月以来在我院妇产科就诊的2482例女性遗传咨询者行外周血染色体核型分析。结果 2482例女性遗传咨询者检出罗伯逊易位携带者18例,占0.73%,其中以rob(13;14)(q10;q10)为主,共计7例。这些携带者的临床表现主要为自然流产、习惯性流产、胎儿染色体异常、胎儿畸形等。女性罗伯逊易位携带者,其自然流产发生率、习惯性流产发生率、生育21三体患儿发生率、胎儿畸形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。结论罗伯逊易位与流产、习惯性流产和胎儿畸形染色体异常之间存在相关性。
Objective To study the relationship between Robertson’s translocation and the history of adverse maternal history. Methods A total of 2482 female genetic counselors who visited our department of obstetrics and gynecology since June 2008 underwent the karyotype analysis of peripheral blood. Results Among the 2482 female genetic counselors, 18 cases were detected by Robertsonian translocation carriers, accounting for 0.73%. Among them, rob (13; 14) (q10; q10) were the main group, a total of 7 cases. The clinical manifestations of these carriers are mainly natural abortion, habitual abortion, fetal chromosomal abnormalities, fetal malformations. The incidence of spontaneous abortion, the incidence of habitual abortion, the incidence of trisomy 21, the incidence of fetal malformations and fetal chromosomal equilibrium translocations in women with Robertson’s translocation were significantly higher than those in the normal controls. Conclusion There is a correlation between Robertsonian translocation and abortion, habitual abortion and fetal abnormality.