DE-NOVO DIRECT DUPLICATION-2 (P12-]P21) WITH PATERNALLY INHERITED PERICENTRIC-INVERSION 2P11.2 2Q12.2

Authors
MAGEE AC HUMPHREYS MW MCKEE S STEWART M NEVIN NC
Citation
Ac. Magee et al., DE-NOVO DIRECT DUPLICATION-2 (P12-]P21) WITH PATERNALLY INHERITED PERICENTRIC-INVERSION 2P11.2 2Q12.2, Clinical genetics, 54(1), 1998, pp. 65-69
Citations number
15
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
54
Issue
1
Year of publication
1998
Pages
65 - 69
Database
ISI
SICI code
0009-9163(1998)54:1<65:DDD(WP>2.0.ZU;2-R
Abstract
We report a 4-year-old girl with a previously undescribed de novo dupl ication of 2p12-->2p21 on the same homologue as a paternally inherited pericentric inversion of region 2p11.2-->2q12.2, resulting in dysmorp hic features, cardiac abnormality, cleft palate, respiratory problems, severe growth retardation and developmental delay. This case raises a n important question - did the paternal pericentric inversion influenc e the occurrence of the de novo duplication? (C) Munksgaard, 1998.