摘要
目的探讨不同染色体间易位与临床效应的关系，为优生和辅助生殖提供理论指导。方法收集2005年1月至2011年12月在北京大学人民医院不孕不育和产前诊断中心进行咨询的患者3067例，对其染色体核型及临床资料进行综合分析。结果72例染色体易位患者中，17例妊娠后检测胎儿染色体易位位点与夫妻一方一致，继续妊娠（17例中70．59％有多次不良孕产史）；另40例染色体易位患者有1～5次不良妊娠史，导致不育结局；还有15例染色体易位患者表现为不同程度的生殖器形态或功能障碍，致原发不孕。结论染色体易位携带者是男女不孕不育的重要因素之一，对其自然受孕或辅助生殖者应行产前诊断，以避免染色体异常患儿出生。
Objective To explore the relationship between chromosome translocation and their phenotypic effect by analyzing the patients with loss pregnancy and avoiding fetuses with chromosomal abnormalities. Methods A total of 3067 cases with infertility or loss pregnancy were recruited to receive chromosome examination during January 2005 to December 2011 at Center of Prenatal Diagnosis, Peking University People＇s Hospital. Retrospective study was used to analyze the chromosome karyotypes and infertility or loss pregnancy. Results In 72 cases of patients with chromosome translocation, there were 17 pregnancies with homology transloeation in fetus. And the numbers of patients with loss pregnancy and sex apparatus malformations were 40 and 15 respectively. Conclusion Chromosome translocation plays an important role in patients with loss pregnancy or infertility. And chromosome examination should be performed to exclude the possibility of chromosome abnormities in patients with obstinate infertility.
出处
《中华医学杂志》
CAS
CSCD
北大核心
2013年第27期2149-2151,共3页
National Medical Journal of China
关键词
染色体易位
不孕不育
自然流产
死胎
畸胎
Chromosome transloeation
Infertility
Loss pregnancy
Fetal death
Tera
