Understanding the basis for Down syndrome phenotypes

Randall J. Roper; Roger H. Reeves

doi:10.1371/journal.pgen.0020050

Understanding the basis for Down syndrome phenotypes

Randall J. Roper, Roger H. Reeves

School of Medicine

Research output: Contribution to journal › Review article › peer-review

136 Scopus citations

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. Copyright:

Original language	English (US)
Pages (from-to)	231-236
Number of pages	6
Journal	PLoS genetics
Volume	2
Issue number	3
DOIs	https://doi.org/10.1371/journal.pgen.0020050
State	Published - Mar 2006

ASJC Scopus subject areas

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

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AB - 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:

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Understanding the basis for Down syndrome phenotypes

Abstract

ASJC Scopus subject areas

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