一例染色体复杂易位患儿的细胞-分子遗传学（CNV）研究  

Cytogenetic and molecular genetics analysis of a patient with complex chromosome translocation

作　　者：刘芙蓉[1] 郝胜菊[1] 梁济慈[1] 周秉博 王真[1] 马盼盼 LIU Fu-rong;HAO Sheng-ju;LIANG Ji-ci;ZHOU Bing-bo;WANG Zhen;MA Pan-pan(Gansu Provincial Maternity and Child-care Hospital,Birth Defects Prevention and Control in Gansu Province Key Laboratory,Gansu Province Lanzhou 730050)

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

出　　处：《中国优生与遗传杂志》2019年第11期1339-1340,F0004,共3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-分子遗传学特点,提高对染色体复杂易位的诊断能力。方法采集患儿及其父母外周血行淋巴细胞染色体核型分析,通过高通量测序染色体组拷贝数分析(CNV)确诊患儿为罕见的复杂易位。结果患儿外周血染色体核型分析结果为46,XY,t(3;5;5;12)(q23;q15;q31;p13),inv(6)(q13q27),父母染色体核型均正常;CNV检出患儿5q15q21.1(97100001-101920000)缺失4.82Mb,5q23.1q23.2(117200001-123180000)缺失5.98Mb,7q36.1q36.2(152540001-153400000)重复0.86Mb。结论结合多种检测技术可深入研究染色体复杂易位的细胞-分子遗传学特点。Objective:The aim of this research is to explore the fragmentation site,cytogenetic and molecular genetics characteristics of complex chromosome translocation.Improving the diagnostic capacity of such rare diseases.Methods:To collect the children and their parents for the lymphocyte nucleotype analysis.The diagnosis of complex translocation was confirmed by copy number variation analysis(CNV).Results:The results of karyotype analysis of peripheral blood of children were 46,XY,t(3;5;5;12)(q23;q15;q31;p13),inv(6)(q13 q27),his parents karyotype were normal.The CNV detected the miss of 5 q15 q21.1(97100001-101920000)and 5 q23.1 q23.2(117200001-123180000)regions in children,the fragment sizes were 4.82 Mb and 5.98 Mb.Detecting the repeat of 7 q36.1 q36.2(152540001-153400000)region,the fragment sizes were 0.86 Mb.Conclusion:Combine multiple detection techniques to further study the cellular-molecular genetic characteristics of complex translocations of chromosomes.

关 键 词：复杂易位 染色体核型分析 CNV 

分 类 号：R596.1[医药卫生—内科学]