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染色体平衡易位对生育的影响 被引量:9

The effect of balanced translocation of chromosome on pregnancy outcome
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摘要 目的:探讨染色体平衡易位与异常孕产的关系。方法:采用外周血淋巴细胞培养、染色体显带技术进行核型分析,通过遗传咨询进行跟踪随访。结果:在1500例外周血检查对象中,检出染色体平衡易位42例,其中常染色体相互易位30例,罗伯逊易位10例,复杂易位2例。共有90次妊娠,孕早期自然流产占83.4%,分娩正常后代、分娩易位后代、死胎、分娩智力低下儿的比例分别为5.6%、4.4%、4.4%、2.2%。结论:染色体平衡易位携带者妊娠结局以孕早期流产为主,染色体平衡易位是造成临床流产、死胎、生育畸形儿的重要原因之一。对所有有生育能力的染色体异常携带者应做产前诊断,同时加强家系调查,控制不良遗传因素个体的出生,以此达到优生目的。 Objective: To investigate the relationship between balanced chromosomal translocation and abnormal pregnancy. Methods: Routine culture for the peripheral blood lymphocytes was made and G, C band was analyzed. Results: There were 42 balanced chromosomal translocation carriers in 1500 cases, including 30 cases of euchromosome reciprocal translocation, 10 cases of robert-sonian translocation, 2 cases of complex translocation. There were 90 pregnancies in 42 carders of balanced translocations, their spontaneous abortions rate was 83.4%. Conclusion: Spontaneous abortion in the first trimester is the main mode of abnormal pregnancy in the carriers of balanced chromosomal translocation, there is a close relationship between balanced translocations and spontaneous abortions. Cytogenetic deception is necessary for carriers and their families in fundamental hospital, it can be helpful for prenatal diagnosis and eugenic.
出处 《中国妇幼保健》 CAS 北大核心 2008年第2期204-206,共3页 Maternal and Child Health Care of China
关键词 染色体 平衡易位 携带者 产前诊断 Chromosome Balanced translocation carrier Prenatal diagnosis
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参考文献5

  • 1Cox JJ, Holden ST, Dee Set al. Identification of a 650 Kb duplication at the X chromosome breakpoint in a pafientwith 46, X, t ( X; 8 ) (q28; q12) and nonsyndromic mental retardation. J Med Genet, 2003, 40:169.
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二级参考文献2

  • 1鲍培忠,当代医师杂志,1996年,1期,3页
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