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

Melanie April Pritchard, R H Reeves, M Dierssen, David Patterson, K J Gardiner

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23 Citations (Scopus)

Abstract

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.
Original languageEnglish
Pages (from-to)67 - 77
Number of pages11
JournalCytogenetic and Genome Research
Volume121
Issue number1
Publication statusPublished - 2008

Cite this

Pritchard, M. A., Reeves, R. H., Dierssen, M., Patterson, D., & Gardiner, K. J. (2008). Down syndrome and the genes of human chromosome 21: Current knowledge and future potentials. Cytogenetic and Genome Research, 121(1), 67 - 77.