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目的:回顾性分析临床上t(11;22)相互易位核型分布及其携带者的临床特征,为t(11;22)相互易位核型携带者提供遗传咨询和合理的辅助生育意见。方法:分析2014年1月-2019年9月临床上t(11;22)相互易位核型的分布情况和临床特征,并对1例进行纳米孔测序与断裂点分析。结果:共获得45例t(11;22)相互易位核型,包括37例外周血染色体易位核型和8例胎儿羊水染色体易位核型。45例t(11;22)相互易位核型共分为7种类型,t(11;22)(q25;q13)例数最多。临床特征包括不良孕产史20例、原发不孕不育12例、t(11;22)携带者7例、正常生育史6例、产检异常者3例和出生异常者1例。纳米孔测序可以精确定位易位断裂点及破坏的基因。结论:t(11;22)相互易位的核型分布、临床特征和断裂点精确定位有助于解释临床表现的遗传学病因,为遗传咨询和辅助生育提供意见。“,”Objective:To analyze the distribution of t(11; 22) reciprocal karyotypes and their clinical features retrospectively, and provide genetic counseling and reasonable assistance fertility advice for t(11; 22) karyotype carriers.Methods:Analyzing the distribution and clinical characteristics of the t(11; 22) reciprocal translocation karyotypes from January 2014 to September 2019, and performing nanopore sequencing and analyzing the fracture point of one case.Results:A total of 45 cases with t(11; 22) reciprocal karyotypes were obtained, including 37 cases of peripheral blood chromosomal translocation karyotypes and 8 cases of fetal amniotic fluid chromosomal translocation karyotypes.There were 7 types of t(11; 22) karyotype, of which t(11; 22)(q25; q13) was the most involved translocation karyotype.The clinical features are divided into 6 categories, included 20 cases of poor pregnancy and birth history, 12 cases of primary infertility, 7 cases of t(11; 22) carriers, 6 cases of normal fertility history, 3 cases of abnormal birth examination and 1 case of abnormal birth.Nanopore sequencing can accurately locate translocation breakpoints and disrupted genes.Conclusion:Karyotype distribution, clinical features, and localization of the breakpoints of the t (11; 22) can help to explain the genetic cause of clinical manifestations, and provide advice for genetic counseling and assisted reproduction.