TETRASOMY 5P MOSAICISM DUE TO AN EXTRA I(5P) IN A SEVERELY AFFECTED GIRL

Authors
LORDASANCHEZ I VILLA A URIOSTE M BERNAL E JASO E GARCIA A MARTINEZFRIAS ML
Citation
I. Lordasanchez et al., TETRASOMY 5P MOSAICISM DUE TO AN EXTRA I(5P) IN A SEVERELY AFFECTED GIRL, American journal of medical genetics, 68(4), 1997, pp. 481-484
Citations number
15
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
68
Issue
4
Year of publication
1997
Pages
481 - 484
Database
ISI
SICI code
0148-7299(1997)68:4<481:T5MDTA>2.0.ZU;2-R
Abstract
We present a case of mosaic 5p tetrasomy. The mosaicism 46,XX/47,XX, i(5p) was found at different ratios in blood lymphocytes, skin fibrobl asts, and chondrocytes. The origin of the extra isochromosome was conf irmed by FISH. The clinical picture corresponds to that described in t risomy 5p patients, although it was more severe than the two previousl y reported cases of mosaic 5p tetrasomy. No correlation between clinic al severity and proportion of tetrasomic cells in blood or fibroblasts was found in these cases. (C) 1997 Wiley-Liss, Inc.