Article
Involvement of germline DDX1-MYCN duplication in inherited nephroblastoma.
European journal of medical genetics - 1 Dec 2013
Fievet Alice, Belaud-Rotureau Marc-Antoine, Dugay Frédéric, Abadie Caroline, Henry Catherine, Taque Sophie, Andrieux Joris, Guyetant Serge, Robert Michel, Dubourg Christèle, Edan Christine, Rioux-Leclercq Nathalie, Odent Sylvie, Jaillard Sylvie
Abstract excerpt
This report concerns a 3-year-old girl with prenatal bilateral nephroblastomatosis and a family history of nephroblastoma. This girl had a chromosome 8 pericentric inversion inherited from her father. This inversion was observed in healthy individuals of the family and was absent in other individuals suffering from embryonic kidney tumor. We then supposed that another genetic anomaly predisposed her to...
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