Maturity-onset diabetes of youth type 5 caused by 17q12 deletion syndrome:a case report
10.3969/j.issn.1006-6187.2024.06.012
- VernacularTitle: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
- Author:
Tongyao GUO
1
;
Xiuying ZHANG
;
Qian REN
;
Min CHENG
;
Fang ZHANG
;
Xueyao HAN
;
Xianghai ZHOU
;
Linong JI
;
Simin ZHANG
Author Information
1. 100044 北京大学人民医院检验科
- Keywords:
17q12 deletion syndrome;
Autosomal dominant disorder;
Hepatocyte nuclear factor 1B;
Maturity-onset diabetes of youth type 5;
Genetic testing
- From:
Chinese Journal of Diabetes
2024;32(6):463-467
- CountryChina
- Language:Chinese
-
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.
