产前诊断一例伴有鼻骨缺失的罕见新发21q(21q22.1→qter)部分三体综合征  

Prenatal diagnosis of a rare case with de novo partial 21q(21q22.1→qter) trisomy syndrome and absent nasal bone

作　　者：陈佳燕 盛楠[2] 蔡美娇 葛运生 Chen Jiayan;Sheng Nan;Cai Meijiao;Ge Yunsheng(Center for Prenatal Diagnosis,Xiamen Maternity and Child Health Care Hospital,Xiamen,Fujian 361003,China;Clinical Laboratory,Zhongshan Hospital Affiliated to Xiamen University,Xiamen,Fujian 361004,China)

机构地区：[1]厦门市妇幼保健院产前诊断中心,361003 [2]厦门大学附属中山医院检验科,361004

出　　处：《中华医学遗传学杂志》2021年第8期783-786,共4页Chinese Journal of Medical Genetics

基　　金：厦门市医学领先学科(产前诊断科)建设项目(厦卫科教〔2016〕601号);厦门市医疗卫生科技计划项目(厦科联〔2019〕24号)。

摘　　要：目的对1例超声提示鼻骨缺失的胎儿进行产前诊断。方法联合应用常规G显带核型分析、单核苷酸多态性微阵列分析(single nucleotide polymorphismarray,SNP-array)技术对胎儿进行产前诊断,并采用荧光原位杂交(fluorescence in situ hybridization,FISH)技术进行验证,应用G显带和FISH技术对胎儿父母行遗传学分析。结果胎儿的核型初步结果为46,XN,add(21)(p11.2),SNP-array提示胎儿在21q22.12q22.3区(hg19:36762648-48093361)有11.3 Mb的重复,FISH结果证实了上述发现,其父母核型及FISH检测均未发现明显异常。胎儿的核型结果最终确定为46,XN,der(21)t(21;21)(p11.2;q22.1),为新发生的21q(21q22.1→qter)部分三体。结论在产前诊断中联合应用多种检测技术,可得出更为精准的检测结果,为产前诊断及遗传咨询提供更为科学的遗传学信息。Objective To carry out prenatal diagnosis for a fetus with absent nasal bone by using cytogenetic and molecular techniques.Methods Chromosomal karyotyping,single nucleotide polymorphism array(SNP-array)and fluorescence in situ hybridization(FISH)assays were applied for the diagnoses.Peripheral blood samples were also taken from the parents for chromosomal karyotyping and FISH analysis.Results The fetus was found to have a 46,XN,add(21)(p11.2)karyotype,and SNP-array has revealed a 11.3 Mb duplication at 21q22.12q22.3(hg19:36762648-48093361),which was confirmed by FISH.Both parents were found to be normal by chromosomal karyotyping and FISH analysis.The fetus was ultimately found to have a karyotype of 46,XN,der(21)t(21;21)(p11.2;q22.1),resulting a de novo partial trisomy of 21q22.1.Conclusion Combined use of various techniques has enabled accurate prenatal diagnosis and genetic counseling for the fetus.

关 键 词：部分21三体综合征 单核苷酸多态性微阵列分析 荧光原位杂交 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]