Chromosome 21 and down syndrome: from genomics to pathophysiology

Nat Rev Genet. 2004 Oct;5(10):725-38. doi: 10.1038/nrg1448.


The sequence of chromosome 21 was a turning point for the understanding of Down syndrome. Comparative genomics is beginning to identify the functional components of the chromosome and that in turn will set the stage for the functional characterization of the sequences. Animal models combined with genome-wide analytical methods have proved indispensable for unravelling the mysteries of gene dosage imbalance.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Chromosome Mapping
  • Chromosomes, Human, Pair 21 / genetics*
  • Disease Models, Animal
  • Down Syndrome / genetics
  • Down Syndrome / physiopathology*
  • Gene Expression*
  • Genetic Variation
  • Humans
  • Mice
  • Phenotype*
  • Trisomy / genetics*