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Article

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

1 Jul 1998

Abstract excerpt

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...

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Identifiers

PMID: 9727743
DOI: 10.1111/j.1399-0004.1998.tb03696.x

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