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浙江大学学报（医学版）
浙江大学学报（医学版）  2019, Vol. 48 Issue (4): 397-402    DOI: 10.3785/j.issn.1008-9292.2019.08.08
专题报道     
一例染色体复杂易位致胎儿多发畸形的遗传学诊断
罗玉琴(),沈敏,孙义锡,钱叶青,王丽雅,俞佳玲,胡珺洁,金帆,董旻岳*()
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, 浙江 杭州 310006
Genetic analysis of a fetus with multiple malformations caused by complex translocations of four chromosomes
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
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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（SNP array）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）。SNP array显示胎儿存在1q42.13q44重复（20 192 kb）及15q26.1q26.3缺失（13 293 kb），核型分析与基因芯片结果不一致。FISH验证了SNP array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。
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    
Abstract:

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.
Key words: Fetus/abnormalities    Chromosomes    Translocation, genetic    Polymorphism, single nucleotide    Microarray analysis    Abnormal karyotype    Prenatal diagnosis    In situ hybridization, fluorescence
收稿日期: 2019-03-28 出版日期: 2019-10-30
:  R349.3  
基金资助: 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)
通讯作者: 董旻岳     E-mail: luoyuqin@zju.edu.cn;dongmy@zju.edu.cn
作者简介: 罗玉琴(1977—), 女, 博士, 副主任技师, 主要从事生殖遗传学研究; E-mail: luoyuqin@zju.edu.cn; https://orcid.org/0000-0001-7839-110X
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引用本文:

罗玉琴,沈敏,孙义锡,钱叶青,王丽雅,俞佳玲,胡珺洁,金帆,董旻岳. 一例染色体复杂易位致胎儿多发畸形的遗传学诊断[J]. 浙江大学学报（医学版）, 2019, 48(4): 397-402.

LUO Yuqin,SHEN Min,SUN Yixi,QIAN Yeqing,WANG Liya,YU Jialing,HU Junjie,JIN Fan,DONG Minyue. Genetic analysis of a fetus with multiple malformations caused by complex translocations of four chromosomes. J Zhejiang Univ (Med Sci), 2019, 48(4): 397-402.

链接本文:

http://www.zjujournals.com/med/CN/10.3785/j.issn.1008-9292.2019.08.08    或    http://www.zjujournals.com/med/CN/Y2019/V48/I4/397

图 1  胎儿G显带染色体核型照片：46, XN, t(12;13)(q22;q32)
图 2  胎儿父亲显带染色体核型照片：46, XY, t(12;13)(q22;q32)
图 3  胎儿母亲显带染色体核型照片：46, XX
图 4  本例胎儿单核苷酸多态性微阵列检测结果
图 5  本例胎儿羊水及父母外周血中期分裂相荧光原位杂交分析结果
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