【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。更多还原

【Abstract】 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.更多还原