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Trisomy 21 Mosaicis...
Trisomy 21 Mosaicism: We May All Have a Touch of Down Syndrome
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- Hulten, M A. (author)
- University of Warwick, England
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- Jonasson, Jon (author)
- Östergötlands Läns Landsting,Linköpings universitet,Molekylär och immunologisk patologi,Hälsouniversitetet,Klinisk patologi och klinisk genetik
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- Iwarsson, E (author)
- Karolinska Institutet
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- Uppal, P (author)
- Imperial Coll School Med, England
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- Vorsanova, S G. (author)
- Rosmedtechnol, Russia
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- Yurov, Y B. (author)
- Rosmedtechnol, Russia
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- Iourov, I Y. (author)
- Rosmedtechnol, Russia
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(creator_code:org_t)
- 2013-01-10
- 2013
- English.
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In: Cytogenetic and Genome Research. - : Karger. - 1424-8581 .- 1424-859X. ; 139:3, s. 189-192
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- Chromosome aberration
- Down syndrome
- Fetus
- Gonad
- Mosaicism
- Trisomy 21
- MEDICINE
- MEDICIN
Publication and Content Type
- ref (subject category)
- art (subject category)
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