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Article

Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies.

American journal of medical genetics. Part A - 1 Jul 2010

Carella Massimo, Spreafico Filippo, Palumbo Orazio, Storlazzi Clelia Tiziana, Tabano Silvia, Miozzo Monica, Miglionico Lucia, Calvano Savino, Sindici Giulia, Gamba Beatrice, Impera Luciana, Collini Paola, Zelante Leopoldo, Radice Paolo, Perotti Daniela

Abstract excerpt

We report on a boy with three cell lines: 46,XY, r(11)(p15.5,q25)[90]/45,XY,-11 [8]/47,XY, r(11)(p15.5,q25)x2[2], with minor anomalies and mental retardation who developed asynchronous bilateral Wilms tumors (WTs). Array comparative genomic hybridization (CGH) performed on peripheral blood leukocytes of the patient led to the identification of a constitutional duplication of 4.8 Mb at 11p15.5-11p15.4. This...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 20583153
DOI: 10.1002/ajmg.a.33420

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Source receipt: pubmed, retrieved 7 Sept 2026.

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