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Trisomy 21 Mosaicism: We May All Have a Touch of Down Syndrome
University of Warwick, England .
Linköpings universitet, Institutionen för klinisk och experimentell medicin, Molekylär och immunologisk patologi. Linköpings universitet, Hälsouniversitetet. Östergötlands Läns Landsting, Diagnostikcentrum, Klinisk patologi och klinisk genetik.
Karolinska Institute, Sweden .
Imperial Coll School Med, England .
Vise andre og tillknytning
2013 (engelsk)Inngår i: Cytogenetic and Genome Research, ISSN 1424-8581, E-ISSN 1424-859X, Vol. 139, nr 3, s. 189-192Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

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.

sted, utgiver, år, opplag, sider
Karger , 2013. Vol. 139, nr 3, s. 189-192
Emneord [en]
Chromosome aberration, Down syndrome, Fetus, Gonad, Mosaicism, Trisomy 21
HSV kategori
Identifikatorer
URN: urn:nbn:se:liu:diva-93871DOI: 10.1159/000346028ISI: 000318475100007OAI: oai:DiVA.org:liu-93871DiVA, id: diva2:627319
Merknad

Funding Agencies|Wellcome Trust|061202/ZOOZ|BBSRC|BB/C003500/1|Swedish Research Council||Stockholm County Council||Deutsches Luft- und Raumfahrtszentrum/Bundesministerium fur Bildung und Forschung|RUS 09/006RUS 11/002|

Tilgjengelig fra: 2013-06-11 Laget: 2013-06-11 Sist oppdatert: 2017-12-06

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