Scientific article

Chromosome 21 and down syndrome: from genomics to pathophysiology

Published inNature reviews. Genetics, vol. 5, no. 10, p. 725-738
Publication date2004

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.

  • Animals
  • Chromosome Mapping
  • Chromosomes, Human, Pair 21/ genetics
  • Disease Models, Animal
  • Down Syndrome/genetics/ physiopathology
  • Gene Expression
  • Genetic Variation
  • Humans
  • Mice
  • Phenotype
  • Trisomy/ genetics
Citation (ISO format)
ANTONARAKIS, Stylianos et al. Chromosome 21 and down syndrome: from genomics to pathophysiology. In: Nature reviews. Genetics, 2004, vol. 5, n° 10, p. 725–738. doi: 10.1038/nrg1448
Main files (1)
ISSN of the journal1471-0056

Technical informations

Creation07/12/2010 11:56:51 AM
First validation07/12/2010 11:56:51 AM
Update time03/14/2023 3:49:59 PM
Status update03/14/2023 3:49:59 PM
Last indexation02/12/2024 6:48:11 PM
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack