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  • Title: Specific chromosome aberrations in ataxia telangiectasia.
    Author: Oxford JM, Harnden DG, Parrington JM, Delhanty JD.
    Journal: J Med Genet; 1975 Sep; 12(3):251-62. PubMed ID: 1177276.
    Abstract:
    Cytogenetic observations on seven cases of ataxia telangiectasia are presented. The aberration frequency was found to be increased in all of them with a specificity for the involvement of the D-group chromosomes in rearrangements. Clones of cytogenetically abnormal cells were observed in the lymphocytes of three cases and in the cultured skin fibroblasts of two cases, again with a specificity for D-group involvement. G-banding shows that chromosome 14 is frequently involved in rearrangements in clone cells and that the band 14q12 may be a highly specific exchange point. The significance of lymphocyte clones with a proliferative advantage in vivo is discussed. Cytogenetic studies of the parents and sibs of these cases are also reported.
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