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...
Topics
- Adult
- Child, Preschool
- Chromosomes, Human, Pair 11
- Comparative Genomic Hybridization
- Cytogenetic Analysis
- DNA Copy Number Variations
- DNA Methylation
- Female
- Genotype