An atypical 0.8Â Mb inherited duplication of 22q11.2 associated with psychomotor impairment

► We report on an atypical and inherited 22q11.2 duplication between LCR-B and LCR-D. ► The phenotype includes motor delay, language disorders and mild facial dysmorphism. ► We confirm incomplete penetrance and variable expressivity of this duplication.