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De novo direct duplication 2 (p12 p21) with paternally inherited pericentric inversion 2p11.2 2q12.2
Author(s) -
Magee A. C.,
Humphreys M. W.,
McKee S.,
Stewart M.,
Nevin N. C.
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1998.tb03696.x
Subject(s) - chromosomal inversion , gene duplication , genetics , biology , abnormality , gene , karyotype , medicine , chromosome , psychiatry
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?