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  • 1.
    Hulten, M A.
    et al.
    University of Warwick, England .
    Jonasson, Jon
    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.
    Iwarsson, E
    Karolinska Institute, Sweden .
    Uppal, P
    Imperial Coll School Med, England .
    Vorsanova, S G.
    Rosmedtechnol, Russia .
    Yurov, Y B.
    Rosmedtechnol, Russia .
    Iourov, I Y.
    Rosmedtechnol, Russia .
    Trisomy 21 Mosaicism: We May All Have a Touch of Down Syndrome2013In: Cytogenetic and Genome Research, ISSN 1424-8581, E-ISSN 1424-859X, Vol. 139, no 3, p. 189-192Article in journal (Refereed)
    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.

  • 2.
    Revay, T.
    et al.
    Research Institute Anim Breeding and Nutr, Hungary .
    Nagy, S.
    University of Pannonia, Hungary .
    Kopp, C.
    University of Helsinki, Finland .
    Flyckt, A.
    University of Helsinki, Finland .
    Rens, W.
    University of Cambridge, England .
    Rath, D.
    Institute Anim Breeding, Germany .
    Hidas, A.
    Research Institute Anim Breeding and Nutr, Hungary .
    Kovacs, A.
    Debrecen University of Med, Hungary .
    Johannisson, A.
    Swedish University of Agriculture Science, Sweden .
    Rodriguez-Martinez, Heriberto
    Swedish University of Agriculture Science, Sweden .
    Andersson, M.
    University of Helsinki, Finland .
    Macrocephaly in Bull Spermatozoa Is Associated with Nuclear Vacuoles, Diploidy and Alteration of Chromatin Condensation2009In: Cytogenetic and Genome Research, ISSN 1424-8581, E-ISSN 1424-859X, Vol. 126, no 1-2, p. 202-209Article in journal (Refereed)
    Abstract [en]

    Spermatozoa from 2 dairy AI (artificial insemination) bulls (A and B), identified by their abnormal spermiogram with cells depicting frequent macrocephaly, double tails and nuclear vacuoles, were case-investigated and compared to normal spermatozoa from a control AI sire (C). Head sizes were measured and morphological abnormalities scored using brightfield and differential interference contrast microscopy. The degree of sperm maturation and of resistance to acid-induced DNA denaturation in situ were determined after uploading of acridine orange using flow cytometry of 5,000 cells/sample. Nuclear fragmentation, i.e. the ratio of red to total (red + green) fluorescence, reached 7.1% and 31% in bulls A and B, compared to 2% in bull C. The proportion of immature spermatozoa, i.e. those with incomplete histone-protamine exchange and depicting higher green fluorescence compared to the main population of the control bull, reached 9.54% in A and 7.75% in B, compared to only 0.47% in the control. In the second part of this study the previously unknown chromosomal constitution of large-headed spermatozoa of bull A was investigated by fluorescence in situ hybridization using an X-Y painting probe set. The 7.5% XY-bearing cells and the presence of diploid spermatozoa detected by flow cytometry indicate a meiotic arrest in the first division in bull A, becoming the first proven case of association of macrocephaly and M1 diploidy. The diverse approaches used for the investigation of spermatozoal DNA provide insights into the etiology of macrocephaly. Copyright (C) 2009 S. Karger AG, Basel

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