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  • Title: Down's syndrome with 47,XX,+21-47,XX,+mar mosaicism.
    Author: Weber FM, Sparkes RS, Muller H.
    Journal: J Med Genet; 1973 Jun; 10(2):177-9. PubMed ID: 4268391.
    Abstract:
    A four-year-old girl with typical Down's syndrome is described. She has 47,XX,+21 karyotype in skin and lymphocytes and 47,XX,+mar karyotype in some lymphocytes. Autoradiography and fluorescent analyses have failed to identify the +mar chromosome which has the appearance of a `D' chromosome but which may involve a translocation to a chromosome No. 21. However, the mechanisms of its formation and its significance are not certain.
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