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Details on patient 3, showing the genomewide array CGH profile, with the 12.37-Mb deletion on 3q27-3q29 (red arrow in panel I), the detailed array CGH profile of the affected chromosome 3 (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 RP11-469G04 (red).
