De novo direct duplication 2 (p12-->p21) with paternally inherited pericentric inversion 2p11.2 2q12.2.

We report a 4-year-old girl with a previously undescribed de novo duplication of 2p12->2p21 on the same homologue as a paternally inherited pericentric inversion of region 2p11.2-->2q12.2, resulting in dysmorphic features, cardiac abnormality, cleft palate, respiratory problems, severe growth retardation and developmental delay. This case raises an important question--did the paternal pericentric inversion influence the occurrence of the de novo duplication?