Mody diabetes

Maturity-onset diabetes of the young type 5 (MODY5), a rare disease, is oftenmisdiagnosed as type 2 diabetes, leading to delays in diagnosis. 17q12 deletionsyndrome is a rare chromosomal abnormality, whose signs and symptoms can varywidely among different patients, including those with MODY type 5 diabetes. In thisarticle, we report the case of a 9-year-old patient with chromosomal deletion syndrome17q12 identified by de novo deletion of the 1.49 Mb segment in the 17q12 band of theHNF1B gene by genetic analysis. The patient presented with MODY-5 diabetes, shortstature and hypertransaminasemia as clinical features. The risk of inheritance of 17q12deletion syndrome is about 50%, and genetic counseling is recommended for all patientswith suspected or diagnosed 17q12 deletion syndrome.