期刊
CYTOGENETIC AND GENOME RESEARCH
卷 139, 期 3, 页码 189-192出版社
KARGER
DOI: 10.1159/000346028
关键词
Chromosome aberration; Down syndrome; Fetus; Gonad; Mosaicism; Trisomy 21
资金
- Wellcome Trust [061202/ZOOZ]
- BBSRC [BB/C003500/1]
- Swedish Research Council
- Stockholm County Council
- Deutsches Luft- und Raumfahrtszentrum/Bundesministerium fur Bildung und Forschung [RUS 09/006, RUS 11/002]
- Biotechnology and Biological Sciences Research Council [BB/C003500/1] Funding Source: researchfish
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. Copyright (C) 2013 S. Karger AG, Basel
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