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Down syndrome and the genes of human chromosome 21: current knowledge and future potentials

Report on the Expert workshop on the biology of chromosome 21 genes: towards gene-phenotype correlations in Down syndrome. Washington D.C., September 28–October 1, 2007

Pritchard M.a · Reeves R.H.b · Dierssen M.c · Patterson D.d · Gardiner K.J.e
aMonash University, Victoria (Australia); bJohns Hopkins University School of Medicine, Baltimore, MD (USA) cCenter for Genomic Regulation, Barcelona (Spain); dEleanor Roosevelt Institute at the University of Denver eUniversity of Colorado Denver, Aurora, CO (USA) Cytogenet Genome Res 121:67–77 (2008) (DOI:10.1159/000124384)


Down syndrome (DS), trisomy of human chromosome 21, is the most common genetic cause of intellectual disability. With an incidence in some countries as high as one in approximately 700 live births, and a complex, extensive and variably severe phenotype, Down syndrome is a significant medical and social challenge. In recent years, there has been a rapid increase in information on the functions of the genes of human chromosome 21, as well as in techniques and resources for their analysis. A recent workshop brought together experts on the molecular biology of Down syndrome and chromosome 21 with interested researchers in other fields to discuss advances and potentials for generating gene-phenotype correlations. An additional goal of the workshop was to work towards identification of targets for therapeutics that will correct features of DS. A knowledge-based approach to therapeutics also requires the correlation of chromosome 21 gene function with phenotypic features.


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