Article
The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer.
Biology of the cell - 1 Jul 2011
Lapunzina Pablo, Monk David
Abstract excerpt
UPD (uniparental disomy) describes the inheritance of a pair of chromosomes from only one parent. Mechanisms that lead to UPD include trisomy rescue, gamete complementation, monosomy rescue and somatic recombination. Most of these mechanisms can involve aberrant chromosomes, particularly isochromosomes and Robertsonian translocations. In the last decade, the number of UPD cases reported in the literature has...
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