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Gene-dosage effects in Down syndrome and trisomic mouse models

Katheleen Gardiner

Author Affiliations

Eleanor Roosevelt Institute at the University of Denver, Department of Biochemistry and Molecular Genetics, University of Colorado Health Sciences Center, 1899 Gaylord Street, Denver, CO 80206, USA

Genome Biology 2004, 5:244  doi:10.1186/gb-2004-5-10-244

Published: 30 September 2004

Abstract

The abnormalities found in human Down syndrome (trisomy 21) have been thought to result from increased expression of genes on chromosome 21 because of their higher gene dosage. Now, several groups have shown this to be generally the case, but some inter-individual variability and other exceptions were found.