两例8号三体嵌合体遗传学分析  

Genetic analysis of two cases of trisomy 8 mosaicism

作　　者：许玲[1] 李显筝[1] 潘丽嫒 李星[1] 郭莉[1] 陈汉彪[1] 郑来萍[1] 王挺[1] XU Ling;LI Xianzheng;PAN Liai;LI Xing;GUO Li;CHEN Hanbiao;ZHENG Laiping;WANG Ting(Medical Genetics Center,Guangdong Women and Children Health Care Hospital)

机构地区：[1]广东省妇幼保健院医学遗传中心,广东广州511442

出　　处：《中国优生与遗传杂志》2022年第8期1376-1379,共4页Chinese Journal of Birth Health & Heredity

基　　金：广东省中医药局科研课题(20212024);广州市科技计划项目(202102080233)。

摘　　要：目的探讨两例8-三体嵌合体患者的临床表型与检测方法,提高对8-三体综合征的认识,为产前检查方案选择提供帮助,提高产前诊断水平。方法应用染色体G显带核型分析、荧光原位杂交(FISH)和染色体微阵列分析(CMA)对受检者标本进行遗传学分析。结果例1羊水G显带核型分析结果为:47,XY,+8[2]/46,XY[32],8-三体嵌合比例占5.9%,CMA提示未见异常。例2外周血G显带核型分析结果为:47,XY,+8[14]/46,XY[86],外周血及口腔黏膜FISH检查结果提示8-三体嵌合,分别占49%和9%。结论8-三体综合征属于罕见的可存活的常染色体三体综合征,临床表型具有多样性,从正常到严重畸形均有病例报道。用于诊断8号三体的检测方法有很多,不同的检测方法都存在自身技术局限性,检测样本类型对检测结果也存在一定影响,科学合理的检查方案可以降低误诊和漏诊,为产前诊断和遗传咨询提供帮助。Objective To investigate the clinical phenotypes and detection methods of two patients with 8-trisomy syndrome and to improve the understanding of 8-trisomy syndrome for providing help for the selection of prenatal examination program and improving the level of prenatal diagnosis.Methods Karyotype analysis,fluorescence in situ hybridization(FISH)and chromosomal microarray analysis(CMA)were used for genetic analysis of the samples.Results The results of G banding in amniotic fluid in case 1 were 47,XY,+8[2]/46,XY[32],and the proportion of 8-trisomy was 5.9%.CMA indicated no abnormality.The peripheral blood G-banding results of case 2 were 47,XY,+8[14]/46,XY[86],and the peripheral blood and oral mucosa FISH examination results suggested 8-trisomy,accounting for 49%and 9%,respectively.Conclusion Trisomy 8syndrome is a rare and viable autosomal trisomy syndrome with a variety of clinical phenotypes ranging from normal to severe malformations.There are many methods to detect trisomy 8,but different methods have their own technical limitations,and the type of test sample has a certain impact on the test results.A scientific and reasonable examination plan can reduce misdiagnosis and missed diagnosis,and provide help for prenatal diagnosis and genetic counseling.

关 键 词：8-三体综合征 8-三体嵌合体 染色体核型分析 染色体微阵列分析 FISH 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]