A case of (X;15) translocation diagnosed as a paracentric inversion of Xp:diagnostic revision with FISH

Authors
Paoloni-Giacobino, A Lespinasse, J Moix, I Dahoun, SP
Citation
A. Paoloni-giacobino et al., A case of (X;15) translocation diagnosed as a paracentric inversion of Xp:diagnostic revision with FISH, ANN GENET, 44(3), 2001, pp. 117-119
Citations number
11
Categorie Soggetti
Molecular Biology & Genetics
Journal title
ANNALES DE GENETIQUE
ISSN journal
00033995 → ACNP
Volume
44
Issue
3
Year of publication
2001
Pages
117 - 119
Database
ISI
SICI code
0003-3995(200107/09)44:3<117:ACO(TD>2.0.ZU;2-R
Abstract
In 1990 we reported the case of a 17 years old girl with growth retardation , overweight and primary amenorrhea, presenting a de novo chromosomal rearr angement cytogenetically characterized as a paracentric inversion of the sh ort arm of X chromosome [4]. The FISH analyses that were recently performed , revealed that in fact our patient presented a case of unbalanced transloc ation, 46,X, t(X;15)(p11.2; q15). (C) 2001 Editions scientifiques et medica les Elsevier SAS.