Article
Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome.
American journal of human genetics - 9 Jul 2010
Rodríguez-Santiago Benjamín, Malats Núria, Rothman Nathaniel, Armengol Lluís, Garcia-Closas Montse, Kogevinas Manolis, Villa Olaya, Hutchinson Amy, Earl Julie, Marenne Gaëlle, Jacobs Kevin, Rico Daniel, Tardón Adonina, Carrato Alfredo, Thomas Gilles, Valencia Alfonso, Silverman Debra, Real Francisco X, Chanock Stephen J, Pérez-Jurado Luis A
Abstract excerpt
Mosaicism is defined as the coexistence of cells with different genetic composition within an individual, caused by postzygotic somatic mutation. Although somatic mosaicism for chromosomal abnormalities is a well-established cause of developmental and somatic disorders and has also been detected in different tissues, its frequency and extent in the adult normal population are still unknown. We provide here a...
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