Author(s): Antonarakis SE, Lyle R, Dermitzakis ET, Reymond A, Deutsch S
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Abstract 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.
This article was published in Nat Rev Genet
and referenced in Journal of Down Syndrome & Chromosome Abnormalities