Understanding the Basis for Down Syndrome Phenotypes

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 fun...

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Detalles Bibliográficos
Autores principales: Roper, Randall J, Reeves, Roger H
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2006
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1420680/
https://www.ncbi.nlm.nih.gov/pubmed/16596169
http://dx.doi.org/10.1371/journal.pgen.0020050
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author Roper, Randall J
Reeves, Roger H
author_facet Roper, Randall J
Reeves, Roger H
author_sort Roper, Randall J
collection PubMed
description 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.
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spelling pubmed-14206802006-04-04 Understanding the Basis for Down Syndrome Phenotypes Roper, Randall J Reeves, Roger H PLoS Genet Review 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. Public Library of Science 2006-03 2006-03-31 /pmc/articles/PMC1420680/ /pubmed/16596169 http://dx.doi.org/10.1371/journal.pgen.0020050 Text en © 2006 Roper and Reeves. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Review
Roper, Randall J
Reeves, Roger H
Understanding the Basis for Down Syndrome Phenotypes
title Understanding the Basis for Down Syndrome Phenotypes
title_full Understanding the Basis for Down Syndrome Phenotypes
title_fullStr Understanding the Basis for Down Syndrome Phenotypes
title_full_unstemmed Understanding the Basis for Down Syndrome Phenotypes
title_short Understanding the Basis for Down Syndrome Phenotypes
title_sort understanding the basis for down syndrome phenotypes
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1420680/
https://www.ncbi.nlm.nih.gov/pubmed/16596169
http://dx.doi.org/10.1371/journal.pgen.0020050
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