TBX1 and Miller-Dieker lissencephaly syndrome: CMA V4 identified a de novo gain in the Miller-Dieker lissencephaly syndrome (MDLS) critical region in 17p13.3 for one patient (case V4-35); V5 revealed one duplication at the DGS/VCFS located in 22q11.2 (case V5-103), and a de novo gain at 4q22.3 (case V5-31) that was detected by a single clone.