Understanding the basis for Down syndrome phenotypes

Randall J. Roper, Roger H. Reeves

Research output: Contribution to journalReview articlepeer-review

136 Scopus citations


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. Copyright:

Original languageEnglish (US)
Pages (from-to)231-236
Number of pages6
JournalPLoS genetics
Issue number3
StatePublished - Mar 2006

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Molecular Biology
  • Genetics
  • Genetics(clinical)
  • Cancer Research


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