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Trisomy 21 Mosaicism : we may all have a touch of down syndrome
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Hultén, M. A., Jonasson, Jon, Iwarsson, Erik, Uppal, P, Vorsanova, S. G., Yurov, Y. B. and Iourov, I. Y. (2013) Trisomy 21 Mosaicism : we may all have a touch of down syndrome. Cytogenetic and Genome Research, Volume 139 (Number 3). pp. 189-192. doi:10.1159/000346028 ISSN 1424-8581.
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Official URL: http://dx.doi.org/10.1159/000346028
Abstract
Ever increasing sophistication in the application of new analytical technology has revealed that our genomes are much more fluid than was contemplated only a few years ago. More specifically, this concerns interindividual variation in copy number (CNV) of structural chromosome aberrations, i.e. microdeletions and microduplications. It is important to recognize that in this context, we still lack basic knowledge on the impact of the CNV in normal cells from individual tissues, including that of whole chromosomes (aneuploidy). Here, we highlight this challenge by the example of the very first chromosome aberration identified in the human genome, i.e. an extra chromosome 21 (trisomy 21, T21), which is causative of Down syndrome (DS). We consider it likely that most, if not all, of us are T21 mosaics, i.e. everyone carries some cells with an extra chromosome 21, in some tissues. In other words, we may all have a touch of DS. We further propose that the occurrence of such tissue-specific T21 mosaicism may have important ramifications for the understanding of the pathogenesis, prognosis and treatment of medical problems shared between people with DS and those in the general non-DS population
Item Type: | Journal Article | ||||
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Divisions: | Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School | ||||
Journal or Publication Title: | Cytogenetic and Genome Research | ||||
Publisher: | Karger | ||||
ISSN: | 1424-8581 | ||||
Official Date: | 2013 | ||||
Dates: |
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Volume: | Volume 139 | ||||
Number: | Number 3 | ||||
Page Range: | pp. 189-192 | ||||
DOI: | 10.1159/000346028 | ||||
Status: | Peer Reviewed | ||||
Publication Status: | Published | ||||
Access rights to Published version: | Restricted or Subscription Access |
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