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Trisomy 21 Mosaicism: We May All Have a Touch of Down Syndrome
University of Warwick, England .
Linköping University, Department of Clinical and Experimental Medicine, Molecular and Immunological Pathology. Linköping University, Faculty of Health Sciences. Östergötlands Läns Landsting, Centre for Diagnostics, Department of Clinical Pathology and Clinical Genetics.
Karolinska Institute, Sweden .
Imperial Coll School Med, England .
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2013 (English)In: Cytogenetic and Genome Research, ISSN 1424-8581, E-ISSN 1424-859X, Vol. 139, no 3, 189-192 p.Article in journal (Refereed) 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.

Place, publisher, year, edition, pages
Karger , 2013. Vol. 139, no 3, 189-192 p.
Keyword [en]
Chromosome aberration, Down syndrome, Fetus, Gonad, Mosaicism, Trisomy 21
National Category
Medical and Health Sciences
URN: urn:nbn:se:liu:diva-93871DOI: 10.1159/000346028ISI: 000318475100007OAI: diva2:627319

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|

Available from: 2013-06-11 Created: 2013-06-11 Last updated: 2013-06-11

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Jonasson, Jon
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Molecular and Immunological PathologyFaculty of Health SciencesDepartment of Clinical Pathology and Clinical Genetics
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