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  • Title: [Chromosomal mosaicism in the r (15) syndrome].
    Author: Malygina NA, Mutovin GR, Filina NP, Akif'ev AP.
    Journal: Genetika; 1980; 16(11):2029-33. PubMed ID: 7193157.
    Abstract:
    Clinical, biochemical and cytogenetic description of a boy with a karyotype 46, XY, r(15) is given. The data obtained suggest that the phenotypic abnormalities of the propositus may be conditioned by the following reasons: 1) deletion of some genetic material from the chromosome 15; 2) position effect of the genes situated near the break points; 3) mosaicism of the chromosome sets owing to sister chromatid exchanges in the ring chromosome. Some clinical traits (nanism and mental retardation) of the children with a ring chromsome 15 confirm the originality of the r(15) syndrome.
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