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目的研究罗伯逊易位与生殖异常的关系。方法对2004年6月以来在吉林油田总医院妇产科就诊的7462例遗传咨询者行外周血染色体核型分析。结果检出罗伯逊易位携带者26例,占0.35%,其中以rob(13;14)(q10;q10)为主,共计10例。这些携带者的临床表现主要为:女性主要表现为自然流产、复发性流产、胎儿染色体异常、胎儿畸形等;男性则主要是少弱畸精、不育、女方反复流产、不良孕产史等。夫妻一方为罗伯逊易位携带者,其妻子自然流产发生率、复发性流产、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。罗伯逊易位携带者男性,其不育症发生率、弱精无精发生率明显高于正常对照人群,精子密度和精子活率明显低于正常对照人群。结论罗伯逊易位与复发性流产、胎儿畸形、染色体异常、男性不育、精子异常之间存在相关性。
Objective To study the relationship between Robertson’s translocation and reproductive abnormalities. Methods A total of 7462 genetic counselors who visited the obstetrics and gynecology department of Jilin Oilfield General Hospital since June 2004 underwent the karyotype analysis of peripheral blood. Results Robertson translocation carrier detected in 26 cases, accounting for 0.35%, of which rob (13; 14) (q10; q10), a total of 10 cases. The main clinical manifestations of these carriers are: women mainly manifested as spontaneous abortion, recurrent miscarriage, fetal chromosomal abnormalities, fetal malformations; men are mainly less weak and malformed, infertility, the woman recurrent miscarriage, poor pregnancy history. The incidence of spontaneous abortion, recurrent spontaneous abortion, fetal malformations and fetal chromosomal equilibrium translocation was significantly higher in couples with Robertsonian translocation than their normal counterparts. Robertsonian translocation in men, the incidence of infertility, the incidence of azoospermia was significantly higher than the normal control population, sperm density and sperm motility was significantly lower than the normal control population. Conclusion There is a correlation between Robertsonian translocation and recurrent spontaneous abortion, fetal malformation, chromosomal abnormalities, male infertility and sperm abnormalities.