18号环状染色体和18号单体嵌合体的产前诊断  

Prenatal diagnosis of ring chromosome 18 and monosomy 18 mosaicism

作　　者：张素华[1] 傅丹[1] ZHANG Suhua;FU Dan(Department of Prenatal Diagnosis,Subei People’s Hospital of Jiangsu Province,Yangzhou,Jiangsu 225001,China)

机构地区：[1]江苏省苏北人民医院产前诊断中心,江苏扬州225001

出　　处：《中国优生与遗传杂志》2023年第2期387-391,共5页Chinese Journal of Birth Health & Heredity

基　　金：江苏省妇幼健康科研项目(F201944)。

摘　　要：目的利用基因组拷贝数变异测序(CNV-seq)技术对一例胎儿羊水细胞核型疑似18号环状染色体[r(18)]的结果进一步分析及验证。方法胎儿羊水细胞培养后进行G显带,未被培养的羊水细胞直接进行CNV-seq检测,从而验证核型分析的结果。结果胎儿羊水细胞染色体核型分析结果为46,XN,?r(18)[48]/45,XY,-18[9]。CNV-seq检测结果为:seq[hg19]del(18)(q21.31q23)chr18:g.55860000_78020000del,seq[hg19]del(18)(p11.32)chr18:g.140000_1160000del。显示胎儿18号染色体q21.31-q23处缺失22.16 Mb区域,同时,18号染色体p11.32处缺失1.02 Mb区域。结论CNV-Seq技术可以定位常规G显带无法定位的断裂点以及判断缺失区域的大小,进一步分析和验证了r(18)的存在,为产前诊断和遗传咨询提供帮助。Objective Genome copy number variation sequencing(CNV-seq)was used to further analyze and verify the results of a case of fetal amniotic fluid cell karyotype suspected of ring chromosome 18.Methods The fetal amniotic fluid cells were cultured for G-banding,and the uncultured amniotic fluid cells were directly tested by CNV-seq to verify the results of karyotype analysis.Results The karyotype analysis result of fetal amniotic fluid cells was 46,XN,?r(18)[48]/45,XY,-18[9].The CNV-seq test results were:seq[hg19]del(18)(q21.31q23)chr18:g.55860000_78020000del,seq[hg19]del(18)(p11.32)chr18:g.140000_1160000del.A 22.16 Mb region was deleted from fetal chromosome 18 at q21.31-q23,and a 1.02 Mb region was deleted at p11.32 on chromosome 18.Conclusion CNV-seq technology can locate breakpoints that cannot be located by conventional G-banding and determine the size of the deletion region,further analyze and verify the existence of circular chromosome 18,and provide help for prenatal diagnosis and genetic counseling.

关 键 词：环状染色体 染色体缺失 下一代测序 拷贝数变异 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]