1例复杂易位不孕患者的细胞遗传学研究  

Cytogenetic study of a complicated translocation infertile patient

作　　者：赵倩 刘亚利[1] 郝胜菊[1] 刘芙蓉[1] 梁济慈[1] 王连[1] ZHAO Qian;LIU Yali;HAO Shengju;LIU Furong;LIANG Jici;WANG Lian(Medical Genetics Center,Gansu Maternal and Child Health Hospital,Gansu Provincial Key Laboratory of Birth Defects Prevention and Control,Lanzhou,Gansu 730050,China)

机构地区：[1]甘肃省妇幼保健院医学遗传学中心,甘肃省出生缺陷防控重点实验室,甘肃兰州730050

出　　处：《中国优生与遗传杂志》2021年第7期990-991,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨染色体复杂易位的断裂位点及细胞遗传学特点,提高对染色体复杂易位的诊断能力。方法采集患者及其丈夫、父母、哥哥外周血行淋巴细胞染色体核型分析,确诊患者为罕见的复杂易位。结果患者外周血染色体核型分析结果为46,XX,t(1;18)(p31;q21.1)t(3;14)(q27;q22),其丈夫、父母、哥哥染色体核型均正常。结论其染色体核型是1号和18号、3号和14号4条染色体两两平衡易位形成的复杂易位,其父母、哥哥染色体核型均正常,因此推测其携带的复杂易位为平衡型且为新发突变。Objective explore to the cleavage site and cytogenetic characteristics of complex chromosomal translocation and improve the diagnostic ability of complex chromosomal translocation. Methods Lymphocyte chromosome karyotype analysis was performed in the peripheral blood of the patients and their husbands, parents and brothers. Results The karyotype analysis of peripheral blood was 46,XX,t(1;18)(p31;q21.1)t(3;14)(q27;q22), her husband, parents and brother is normal. Conclusion The karyotype is a complex translocation formed by the balanced translocation of 4 chromosomes 1 and 18,3 and 14.His parents, his brother’s karyotypes are normal. Therefore, it is speculated that the complex translocation is balanced and new mutation.

关 键 词：复杂易位 染色体核型分析 

分 类 号：R711.6[医药卫生—妇产科学]