Abstract: Objective To summarize the clinical characteristics of chromosomal 17q12 microdeletion syndrome in children in order to improve the understanding of the disease. Methods The clinical data of 3 children with chromosomal 17q12 microdeletion syndrome admitted from October 2014 to October 2021 were retrospectively analyzed. Genome-wide chromosomal copy number variation was detected by second-generation sequencing and the relevant literature was reviewed. Results Large deletions (1.89Mb, 1.4Mb and 1.8Mb, respectively) were found on chromosome 17q12 of 3 children (2 boys and 1 girl), and the deletions were all de novo variations. All three patients had renal cysts, hyperuricemia and elevated alkaline phosphatase. Two patients had unilateral renal dysplasia and proteinuria. Two patients had hypomagnesemia, 2 had hypercholesterolemia, 2 had diabetes mellitus, and 1 had elevated liver enzymes. Conclusions Chromosome 17q12 microdeletion syndrome is a rare genetic disorder affecting multiple organ systems, mainly manifesting as renal cysts and dysplasia, as well as metabolic and endocrine abnormalities such as diabetes, hyperuricemia, and hypercholesterolemia.

Key words: 17q12 microdeletion syndrome, hepatocyte nuclear factor 1 beta, renal cyst, genetic disease, child