Understanding the basis for Down syndrome phenotypes.

Randall J. Roper, Roger H Reeves

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
JournalPLoS Genetics
Volume2
Issue number3
DOIs
StatePublished - Mar 2006

Fingerprint

Down syndrome
trisomics
Trisomy
Down Syndrome
phenotype
chromosome
Phenotype
Chromosomes, Human, Pair 21
Human Chromosomes
chromosomes
genotype
Chromosomes
Genotype
gene
Genes
genes
effect

ASJC Scopus subject areas

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

Cite this

Understanding the basis for Down syndrome phenotypes. / Roper, Randall J.; Reeves, Roger H.

In: PLoS Genetics, Vol. 2, No. 3, 03.2006.

Research output: Contribution to journalArticle

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