摘要目的 以4例染色体复杂重排新核型的确诊为例,探讨这类染色体异常的检测方法及遗传咨询.方法 应用常规G显带技术分析4例复杂易位患者的染色体核型,其中2例为智力低下患者,另2例来自有自然流产史的夫妇.2例智力低下患者应用FISH和CGH技术进一步分析并检测其父母核型.查询相关数据库检索4例核型的发生率.结果 4例患者的核型分别为46,XYqh+,t(1;12;2;10)(q25;q11;p14;p11),inv(1)(p22q25),46,XY,t(7;21;8)(p13;q22;p21),46,XX,t(3;7;10)(q28;p15;q22)和46,XY,t(2;16;5)(q33;p12;q33).2例智力低下患者经FISH和CGH检测未发现其他染色体的异常,未见染色体微小重复或缺失.4例核型均为国内外文献未曾报道的新核型.结论 染色体复杂重排的遗传学检测需要综合考虑多种核型分析方法的结果,染色体复杂重排的遗传咨询需要着重结合其重排类型和临床症状进行分析.

abstractsObjective To explore the testing methods and genetic counseling issues based on 4 cases of new kayoytpes of complex chromosomal rearrangements(CCRs).Methods 4 patients with CCRs were analyzed by ordinary G banding,among them 2 patients were mental retardation,and another two had spontaneous abortion.FISH and comparative genomic hybridization(CGH) were further used to study the two patients with mental retardation.The testing methods and genetic counseling issues were reviewed by literatures.Results The karyotypes of the 4 patients were 46,XYqh+,t(1;12;2;10)(q25;q11;p14;p11),inv(1)(p22q25),46,XY,t(7;21;8)(p13;q22;p21),46,XX,t(3;7;10)(q28;p15;q22) and 46,XY,t(2;16;5)(q33;p12;q33),respectively.The abnormal karyotypes of the two mental retardation patients were de novo,and no minute translocation and other structural rearrangement were found by multicolor FISH and CGH.The four karyotypes Were not reported by any international journal.Conclusion Traditional karyotyping analysis is the base for testing complex chromosomal rearrangements.The genetic effects of complex chromosomal rearrangements are involved in fertility difficulties and mental retardation,and are also related with the rearrangement types.