New data on clonal anomalies of chromosome 14 in ataxia telangiectasia: tct(14;14) and inv(14).
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 alpha-chain of the T-cell receptor and IgH clusters of genes.
D000293:Adolescent; D001260:Ataxia Telangiectasia / Q000235:genetics*; D002648:Child; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D002901:Chromosomes, Human, 13-15; D002999:Clone Cells; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic