Chromosome 21 and down syndrome: from genomics to pathophysiology.
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.
Antonarakis
Stylianos E
SE
Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, 1 rue Michel-Servet, 1211 Geneva, Switzerland. Stylianos.Antonarakis@medecine.unige.ch
Lyle
Robert
R
Dermitzakis
Emmanouil T
ET
Reymond
Alexandre
A
Deutsch
Samuel
S
D000818:Animals; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D004195:Disease Models, Animal; D004314:Down Syndrome / Q000235:genetics / Q000503:physiopathology*; D015870:Gene Expression; D014644:Genetic Variation; D006801:Humans; D051379:Mice; D010641:Phenotype; D014314:Trisomy / Q000235:genetics*