一例染色体复杂易位致胎儿多发畸形的遗传学诊断  

Genetic analysis of a fetus with multiple malformations caused by complex translocations of four chromosomes

作　　者：罗玉琴[1] 沈敏[1] 孙义锡[1] 钱叶青[1] 王丽雅[1] 俞佳玲 胡珺洁[1] 金帆[1] 董旻岳[1] LUO Yuqin;SHEN Min;SUN Yixi;QIAN Yeqing;WANG Liya;YU Jialing;HU Junjie;JIN Fan;DONG Minyue(Key Laboratory of Reproductive Genetics, Ministry of Education, Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China)

机构地区：[1]浙江大学医学院附属妇产科医院生殖遗传科生殖遗传教育部重点实验室

出　　处：《浙江大学学报（医学版）》2019年第4期397-402,共6页Journal of Zhejiang University(Medical Sciences)

基　　金：浙江省重点研发计划(2019C03025);浙江省医药卫生科技计划(2017KY427);浙江省教育厅科研项目(Y201737590)

摘　　要：目的:对一例染色体复杂易位致多发畸形胎儿进行遗传学分析和诊断。方法:对一例多发畸形胎儿行G显带染色体核型分析、单核苷酸多态性微阵列(SNParray)及荧光原位杂交(FISH)检测。胎儿父母行外周血染色体核型分析及FISH检测。结果:胎儿的羊水染色体核型为46,XN,t(12;13)(q22;q32)。SNParray显示胎儿存在1q42.13q44重复(20192kb)及15q26.1q26.3缺失(13293kb),核型分析与基因芯片结果不一致。FISH验证了SNParray的结果。母亲外周血FISH结果确认为隐匿性46,XX,t(1;15)(q42.1;q26.1)携带者,而胎儿遗传了其中一条衍生的15号染色体der(15)t(1;15)(q42.1;q26.1)。即胎儿遗传了父亲的t(12;13)(q22;q32)平衡易位及母亲的隐匿性平衡易位形成的衍生15号染色体。结论:1q42.13q44重复和15q26.1q26.3缺失是导致本例胎儿畸形的遗传学病因,产前诊断时多种遗传学技术联合应用可为临床提供准确的诊断。Objective: To conduct genetic analysis in a fetus with complex translocation of four chromosomes. Methods: G-banded chromosome karyotype analysis, single nucleotide polymorphism array (SNP array) and fluorescence in situ hybridization (FISH) were performed in a fetus with multiple malformations. Peripheral blood chromosome karyotype and FISH were also carried out for the parents. Results: The fetal amniotic fluid karyotype was 46, XY, t(12;13)(q22;q32). SNP array analysis showed that there were 20 192 kb duplication at 1q42.13q44 and 13 293 kb deletion at 15q26.1q26.3 in the fetus. The results of karyotype and SNP array were inconsistent. FISH analyses on the parental peripheral blood samples demonstrated that the mother was a cryptic 46, XX, t(1;15)(q42.1;q26.1) translocation. The fetus had inherited 46, XY, t(12;13)(q22;q32) from his father and der(15)t(1;15)(q42.1;q26.1) from his mother. Conclusions: The 1q42.13q44 duplication and 15q26.1q26.3 deletion may have contributed to the abnormal sonographic features of the fetus. The combination of cytogenetic, SNP array and FISH techniques was beneficial for providing an accurate genetic counseling.

关 键 词：胎儿/畸形 染色体 易位 遗传 多态性 单核苷酸 微阵列分析 异常核型 产前诊断 原位杂交 荧光 

分 类 号：R349.3[医药卫生—基础医学]