两例染色体1p36缺失综合征胎儿的产前诊断  

Prenatal diagnosis of two fetuses with chromosome lp36 deletion syndrome

作　　者：季修庆[1] 胡焕然[1] 王艳[1] 梁栋[1] 罗春玉[1] 孟露露[1] 周静[1] 曹荔[1] 马定远[1] 胡平[1] 许争峰[1] 

机构地区：[1]南京医科大学附属妇产医院产前诊断研究室,210004

出　　处：《中华医学遗传学杂志》2017年第6期853-856,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（81300495）;江苏省妇幼保健科研课题基金（F201314）;江苏省卫生厅医学科研立项课题（H201343）;江苏省科技厅社会发展项目（BE2015614）

摘　　要：目的应用单核苷酸多态性微阵列芯片（single nucleotide polymorphism array，SNP array）对两例超声提示多发畸形的胎儿进行检测，并结合文献探讨染色体1p36缺失综合征的产前诊断。方法对两名孕妇进行羊膜腔穿刺。通过培养的羊水细胞对其胎儿进行G显带染色体核型分析，并采用SNP array对胎儿进行全基因组分析，对胎儿的双亲进行外周血染色体G显带分析。结果胎儿1的G显带核型为46，XY，add（1p36）？，胎儿2的核型为46，XX，add（1p36）？。胎儿1SNP array检测结果为arr[19]1p36．33p36．32（752566—3393462）×1，7q35q36．3（144480549—159119486）×3；胎儿2的检测结果为arr[19]1p36．33p36．23（752566—8362754）×1，6p25．3p22．3（204909—20182185）×3。胎儿1母亲的G显带核型为46，XX，t（1；7）（p36；q35），胎儿2母亲的核型为46，XX，t（1；6）（p36；p22），两名父亲的染色体核型均未见异常。结论SNParray具有高分辨和高准确性等优点，适用于lp36缺失综合征的产前诊断，并可为遗传咨询提供更为详细的信息。Objective To analyze two fetuses with multiple malformations revealed by ultrasonography using single nucleotide polymorphism array （SNP array）, and to explore the strategy for the prenatal diagnosis of 1p36 deletion syndrome. Methods Amniocentesis was performed on the two pregnant women. Amnion fluid cells were cultured, and karyotypes of the fetuses were determined through G-banding analysis. Whole genome SNP array was used to detect genomic anomalies of the two fetuses. The karyotypes of their parents were determined through G-banding analysis of peripheral venous blood samples. Results G-banding analysis showed a 46,XY,add（1p36）？ and a 46,XX,add（1p36）？ karyotype for fetuses 1 and 2, respectively. SNP array analysis showed that the fetus 1 had arr[19]1p36.33p36.32 （752 566 3 393 462）〈1 and 7q35q36. 3 （144 480 549-159 119 486）X3, and fetus 2 had arr[19]1p36. 33p36. 23 （752 566-8 862 754） ×1, 6p25.3p22.3 （204 909-20 182 185）×3. The mother of fetus 1 hada46,XX,t（1; 7）（p36;q35） karyotype, and the mother of fetus 2 had a 46, XX, t（1; 6） （p36; p22） karyotype. The karyotypes of both fathers appeared to be normal Conclusion SNP array has the advantages such as high sensitivity and high accuracy for prenatal diagnosis, and can provide more detailed information for genetic counseling of lp36 deletion Syndrome.

关 键 词：染色体1p36缺失综合征 产前诊断 单核苷酸多态性微阵列芯片 胎儿侧脑室增宽 

分 类 号：R714.5[医药卫生—妇产科学]