Background: Wisconsin syndrome is a congenital anomaly caused by a 3q interstitial deletion. It is associated with characteristic facies and developmental delays. Only 33 cases with a deletion estimated to be in the associated region 3q25 have been reported.
Case report: We present the case of a 5-year-old Japanese girl with a 3q24q25.2 deletion. Her facial features corresponded to the Wisconsin syndrome phenotype, and she exhibited brain volume laterality, which has not been reported previously.
Conclusion: The clinical features of our case may contribute to narrowing down the list of candidate genes of Wisconsin syndrome.
Keywords: 3q interstitial deletion; Brain volume laterality; WWTR1; Wisconsin syndrome.
© 2022. The Author(s).