J Med Genet. 1975 Sep;12(3):251-62.

Specific chromosome aberrations in ataxia telangiectasia.

Oxford JM, Harnden DG, Parrington JM, Delhanty JD.

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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PMCID:: PMC1013285

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Cited by 8 PubMed Central articles

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