Clinical report of a 17q12 microdeletion with additionally unreported clinical features

The 17q12 region contains copy number variations previously reported in association with a variety of clinical findings, most frequently renal cystic disease, maturity onset diabetes of the young type 5, pancreatic atrophy, Mullerian aplasia in females, and variable cognitive involvement [1–6]. Renal cystic disease is, perhaps, the most widely reported feature resulting from the 17q12 deletion, while cognitive impairment and autism spectrum disorder have recently been associated with this deletion [2].