PITPNA and Miller-Dieker syndrome: In our patient, terminal 10.5 Mb duplication of the short arm of chromosome 17 affected 315 genes, 55 of which are OMIM-morbid ones, and included 8 genes of the critical region of Miller-Dieker syndrome: PRP8 (607300), RILP (607848), SREC (607873), PITPNA (600174), SKIP (603055), MYO1C (606538), CRK (164762) and YWHAE (605066).