A novel preimplantation genetic testing strategy for a subtelomeric genetic disorder:A case study  

作　　者：Songchang Chen Li Wanng Luting Chen Weihui Shi Junyu Zhang Yuting Hu Yinyu Wang Li Jin Jianzhong Sheng Feng Zhang Yanting Wu Hefeng Huang Chenming Xu 

机构地区：[1]Obstetrics and Gynecology Hospital,Institute of Reproduction and Development,Fudan University,Shanghai 200090,China [2]The International Peace Maternity and Child Health Hospital,School of Medicine,Shanghai Jiao Tong University,Shanghai 200030,China [3]Research Units of Embryo Original Diseases,Chinese Academy of Medical Sciences,Shanghai 200030,China [4]Key Laboratory of Reproductive Genetics(Ministry of Education),Department of Reproductive Endocrinology,Women's Hospital,Zhejiang University School of Medicine,Hangzhou,Zhejiang 310058,China [5]Shanghai Key Laboratory of Embryo Original Diseases,Shanghai 200030,China [6]Shanghai First Maternity and Infant Hospital,Tongji University School of Medicine,Shanghai 200030,China

出　　处：《Genes & Diseases》2024年第4期13-15,共3页基因与疾病（英文）

基　　金：supported by the research grants from the subproject of the China's National Key Research and Development Program(No.2021YFC2701002,2022YFC2703700,2022YFC2703702);the National Natural Science Foundation of China(No.81971344,82171677,82192864,82088102,81901495);the Shanghai Municipal Commission of Science and Technology Program(China)(No.22S31901500,21Y21901002,23ZR1408000);Shanghai Municipal Health Commission(No.GW-10.1-XK07);Shanghai Municipal Commission of Health and Family Planning(China)(No.202140110);CAMS Innovation Fund for Medical Sciences(No.2019-12M-5-064);Collaborative Innovation Program of Shanghai Municipal Health Commission(China)(No.2020CXJQ01);Clinical Research Plan of SHDC(China)(No.SHDC2020CR1008A);Shanghai Clinical Research Center for Gynecological Diseases(China)(No.22MC1940200);Shanghai Urogenital System Diseases Research Center(China)(No.2022ZZ01012);Shanghai Frontiers Science Research Center of Reproduction and Development(China).

摘　　要：Preimplantation genetic testing(PGT)is a precise and effective technique for detecting inherited pathogenic mutations to prevent birth defects.However,there are few reports on PGT for pseudo-autosomal genetic diseases.

关 键 词：IMPLANTATION TESTING PRECISE 

分 类 号：R394[医药卫生—医学遗传学]