Chromosome 3q22.2-q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation. Deletion of the adjoining chromosome region 3q24 is associated with Dandy-Walker malformation, while 3q22.3 deletion is associated with blepharophimosis-ptosis-epicanthus inversus syndrome. Here, we report an individual with chromosome 3q22.2-q26.2 interstitial deletion presenting with Wisconsin syndrome, blepharophimosis-ptosis-epicanthus inversus syndrome, Dandy-Walker malformation, Pierre Robin sequence, global developmental delays, and recurrent infections. This is the largest contiguous gene deletion reported in this region, and the combination of clinical features seen in this individual has not been reported before. Additionally, we propose that STAG1 is a candidate gene for recurrent infections in addition to cognitive impairment.