Understanding the Basis for Down Syndrome Phenotypes
Open Access
- 31 March 2006
- journal article
- review article
- Published by Public Library of Science (PLoS) in PLoS Genetics
- Vol. 2 (3) , e50
- https://doi.org/10.1371/journal.pgen.0020050
Abstract
Down syndrome is a collection of features that are caused by trisomy for human Chromosome 21. While elevated transcript levels of the more than 350 genes on the chromosome are primarily responsible, it is likely that multiple genetic mechanisms underlie the numerous ways in which development and function diverge in individuals with trisomy 21 compared to euploid individuals. We consider genotype–phenotype interactions with the goal of producing working concepts that will be useful for approaches to ameliorate the effects of trisomy.Keywords
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