17q12缺失综合征引起年轻的成年发病型糖尿病5型一例报道  

Maturity-onset diabetes of youth type 5 caused by 17q12 deletion syndrome:a case report

作　　者：郭童瑶 张秀英[2] 任倩[2] 程敏[3] 张放[2] 韩学尧[2] 周翔海[2] 纪立农[2] 张思敏[2] GUO Tongyao;ZHANG Xiuying;REN Qian(Department of Clinical Laboratory,Peking University People's Hospital,Beijing 100044,China)

机构地区：[1]北京大学人民医院检验科,100044 [2]北京大学人民医院内分泌科,100044 [3]北京大学人民医院影像科,100044

出　　处：《中国糖尿病杂志》2024年第6期463-467,共5页Chinese Journal of Diabetes

摘　　要：17q12缺失综合征是一种影响多器官系统的罕见常染色体显性遗传病,因17号染色体长臂1区2带区域约1.4~1.8 Mb的DNA片段缺失所致,缺失片段包括肝细胞核因子1B在内的多个基因,临床特征为年轻的成年发病型糖尿病5型、肾脏结构功能异常、神经发育或精神异常。17q12 deletion syndrome is a rare autosomal dominant disorder affecting multiple organ systems caused by the deletion of DNA fragments approximately 1.4~1.8 Mb in band 2 of region 1,the long arm of chromosome 17,including hepatocyte nuclear factor 1B.The clinical manifestation of the disease ismaturity-onset diabetes of youth type 5,abnormalities in renalstructure or function,as well as in neurodevelopment or psychiatric systems.

关 键 词：17q12缺失综合征 常染色体显性遗传病 肝细胞核因子1B 年轻的成年发病型糖尿病5型 基因检测 

分 类 号：R587.1[医药卫生—内分泌]