Titre du document / Document title
Proteus syndrome and somatic mosaicism of the chromosome 16
Auteur(s) / Author(s)CARDOSO M. T. O.
BUNTE DE CARVALHO T.
CASULARI L. A.
Résumé / Abstract
The authors describe clinical pathologic findings in a patient with a structural chromosome 16 anomaly in mosaic distribution with the phenotypic characteristics of the Proteus syndrome. This is the 1st
report showing that the Proteus syndrome may be associated with a chromosome 16 anomaly; while previous findings suggested that this syndrome was associated with a modification of chromosome 1. As the pathologic hypothesis of this syndrome possibly involves lethal genes in somatic mosaicism, responsible for control of cellular proliferation and/or alteration in the mechanism of action of some growth factors, chromosomal alterations found in the patient described in this work may suggest the location of the genes involved in this syndrome.
Revue / Journal TitlePanminerva medica
Source / Source
2003, vol. 45, no
4, pp. 267-271 [5 page(s) (article)]
Langue / Language
Editeur / Publisher
Minerva medica, Torino, ITALIE
Localisation / Location
INIST-CNRS, Cote INIST : 1550, 35400011653392.0050
Nº notice refdoc (ud4) : 15505734