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Down syndrome—recent progress and future prospects
Down syndrome (DS) is caused by trisomy of chromosome 21 (Hsa21) and is associated with a number of deleterious phenotypes, including learning disability, heart defects, early-onset Alzheimer's disease and childhood leukaemia. Individuals with DS are affected by these phenotypes to a variable e...
Autores principales: | , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2009
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2657943/ https://www.ncbi.nlm.nih.gov/pubmed/19297404 http://dx.doi.org/10.1093/hmg/ddp010 |
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author | Wiseman, Frances K. Alford, Kate A. Tybulewicz, Victor L.J. Fisher, Elizabeth M.C. |
author_facet | Wiseman, Frances K. Alford, Kate A. Tybulewicz, Victor L.J. Fisher, Elizabeth M.C. |
author_sort | Wiseman, Frances K. |
collection | PubMed |
description | Down syndrome (DS) is caused by trisomy of chromosome 21 (Hsa21) and is associated with a number of deleterious phenotypes, including learning disability, heart defects, early-onset Alzheimer's disease and childhood leukaemia. Individuals with DS are affected by these phenotypes to a variable extent; understanding the cause of this variation is a key challenge. Here, we review recent research progress in DS, both in patients and relevant animal models. In particular, we highlight exciting advances in therapy to improve cognitive function in people with DS and the significant developments in understanding the gene content of Hsa21. Moreover, we discuss future research directions in light of new technologies. In particular, the use of chromosome engineering to generate new trisomic mouse models and large-scale studies of genotype–phenotype relationships in patients are likely to significantly contribute to the future understanding of DS. |
format | Text |
id | pubmed-2657943 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2009 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-26579432009-04-17 Down syndrome—recent progress and future prospects Wiseman, Frances K. Alford, Kate A. Tybulewicz, Victor L.J. Fisher, Elizabeth M.C. Hum Mol Genet Reviews Down syndrome (DS) is caused by trisomy of chromosome 21 (Hsa21) and is associated with a number of deleterious phenotypes, including learning disability, heart defects, early-onset Alzheimer's disease and childhood leukaemia. Individuals with DS are affected by these phenotypes to a variable extent; understanding the cause of this variation is a key challenge. Here, we review recent research progress in DS, both in patients and relevant animal models. In particular, we highlight exciting advances in therapy to improve cognitive function in people with DS and the significant developments in understanding the gene content of Hsa21. Moreover, we discuss future research directions in light of new technologies. In particular, the use of chromosome engineering to generate new trisomic mouse models and large-scale studies of genotype–phenotype relationships in patients are likely to significantly contribute to the future understanding of DS. Oxford University Press 2009-04-15 /pmc/articles/PMC2657943/ /pubmed/19297404 http://dx.doi.org/10.1093/hmg/ddp010 Text en © 2009 The Author(s) |
spellingShingle | Reviews Wiseman, Frances K. Alford, Kate A. Tybulewicz, Victor L.J. Fisher, Elizabeth M.C. Down syndrome—recent progress and future prospects |
title | Down syndrome—recent progress and future prospects |
title_full | Down syndrome—recent progress and future prospects |
title_fullStr | Down syndrome—recent progress and future prospects |
title_full_unstemmed | Down syndrome—recent progress and future prospects |
title_short | Down syndrome—recent progress and future prospects |
title_sort | down syndrome—recent progress and future prospects |
topic | Reviews |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2657943/ https://www.ncbi.nlm.nih.gov/pubmed/19297404 http://dx.doi.org/10.1093/hmg/ddp010 |
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