46,XX,t(5;10;13;14)复杂平衡易位者染色体核型报告与病情分析  

Karyotype report and disease analysis of 46,XX,t(5;10;13;14)with complex balanced chromosomal translocation

作　　者：姜建喜 孙洪亮 刘春娇[1] 李清春[1] 王雁林[1] JIANG Jianxi;SUN Hongliang;LIU Chunjiao;LI Qingchun;WANG Yanlin(Department of Reproductive Medicine,Binzhou Medical University Hospital,Binzhou 256603,Shandong,P.R.China)

机构地区：[1]滨州医学院附属医院生殖医学科,山东滨州256603

出　　处：《滨州医学院学报》2021年第5期352-354,共3页Journal of Binzhou Medical University

摘　　要：目的探讨染色体复杂平衡易位对女性受孕的影响。方法应用G显带技术对1对夫妇患者的外周血染色体进行分析,通过体外受精-胚胎移植(IVF-ET)技术对患者胚胎发育情况进行分析。结果患者外周血染色体核型为46,XX,t(5;10;13;14),4条染色体发生复杂易位,同时存在插入,丈夫外周血染色体核型正常;该夫妇进行1周期IVF助孕,获卵14枚,受精12枚,第3日(D3)形成优质胚胎11枚,第5日(D5)形成优质囊胚7枚。结论本患者虽然染色体复杂易位情况罕见,但仍能获得较多的优质囊胚。罕见的染色体复杂平衡易位患者获得完全正常后代的可能性极低,建议通过供卵途径助孕。Objective To screen and analyze the karyotype of a patient with a complex balanced translocation of chromosomes.Methods The G-banding technique was used to analyze the chromosomes of the peripheral blood of the couple,and the embryo development of the patient was analyzed by the in vitro fertilization and embryo transfer(IVF-ET)technique.Results The karyotype of the patient′s peripheral blood was 46,XX,t(5;10;13;14).There were complex translocations in 4 chromosomes and there were insertions at the same time.The husband′s peripheral blood chromosome karyotype was normal;the couple went through 1 cycle IVF assisted pregnancy,14 eggs were obtained,12 fertilized,11 high-quality embryos were formed on the 3rd day(D3),and 7 high-quality blastocysts were formed on the 5th day(D5).Conclusion Although complicated chromosome translocation is rare,this patient can still obtain more high-quality blastocysts.The possibility of rare complex balanced chromosomal translocations to obtain completely normal offspring is extremely low,and it is recommended to assist in pregnancy through the donation of eggs.

关 键 词：染色体易位 核型 体外受精 胚胎移植 

分 类 号：R715.5[医药卫生—妇产科学]