PROXIMAL PARTIAL 5P TRISOMY RESULTING FROM A MATERNAL (19-5) INSERTION

Authors
LORDASANCHEZ I URIOSTE M VILLA A CARRASCOSA MD VAZQUEZ MS MARTINEZ A MARTINEZFRIAS ML
Citation
I. Lordasanchez et al., PROXIMAL PARTIAL 5P TRISOMY RESULTING FROM A MATERNAL (19-5) INSERTION, American journal of medical genetics, 68(4), 1997, pp. 476-480
Citations number
28
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
68
Issue
4
Year of publication
1997
Pages
476 - 480
Database
ISI
SICI code
0148-7299(1997)68:4<476:PP5TRF>2.0.ZU;2-#
Abstract
We present a case with a partial duplication 5p11-->5p13.3 resulting f rom a maternal ins (19,5)(p11;p11-p13.3). The diagnosis was confirmed by FISH and complement component determinations. The clinical picture was similar to those described in patients with complete duplication o f the short arm and in some patients with partial 5p duplications, aff ecting at least band 5p13. A special significance of band 5p13 in the clinical severity of 5p duplications is discussed. (C) 1997 Wiley-Liss , Inc.