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Details on patient 5, showing the genomewide array CGH profile, with the 2.85-Mb deletion on 9q31 (red arrow in panel I), the detailed array CGH profile of the affected chromosome 9 (deletion indicated [red arrow in panel II]), confirmation of the de novo deletion by MLPA of both patient and parental DNA (panel III), and confirmation by FISH (panel IV) using clone RP11-177I08 (green) and a centromere probe as the control (red).
