Summary
From a series of 53 patients with ataxia telangiectasia, two large clones with a t tan or tct(14;14) and two with an inv(14) were observed among phytohaemagglutinin (PHA)-stimulated lymphocytes. Smaller clones with the same inv(14) were observed in two other cases. Similar breakpoints may exist, both for t(14;14) and inv(14): q11.1/q11.2 and q32, and it is postulated that the rearrangements are related to a recombination of the α-chain of the T-cell receptor and IgH clusters of genes.
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Aurias, A., Croquette, M.F., Nuyts, J.P. et al. New data on clonal anomalies of chromosome 14 in ataxia telangiectasia: tct (14;14) and inv(14). Hum Genet 72, 22–24 (1986). https://doi.org/10.1007/BF00278811
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DOI: https://doi.org/10.1007/BF00278811