Aneuploidy: from a physiological mechanism of variance to Down syndrome.

  title={Aneuploidy: from a physiological mechanism of variance to Down syndrome.},
  author={Mara Dierssen and Yann H{\'e}rault and Xavier Estivill},
  journal={Physiological reviews},
  volume={89 3},
Quantitative differences in gene expression emerge as a significant source of variation in natural populations, representing an important substrate for evolution and accounting for a considerable fraction of phenotypic diversity. However, perturbation of gene expression is also the main factor in determining the molecular pathogenesis of numerous aneuploid disorders. In this review, we focus on Down syndrome (DS) as the prototype of "genomic disorder" induced by copy number change. The… CONTINUE READING
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