Cytogenetic and molecular studies of siblings with ataxia telangiectasia followed for 7 years

We present cytogenetic, immunologic, and molecular data obtained over 7 years from a family with ataxia telangiectasia (AT) including 2 affected children and their unaffected sibling, and their obligate heterozygous parents. In a period of 3 years, the T lymphocytes from both AT patients showed clonal rearrangements of chromosomes 7 and 14 at specific bands (7p13, 7q35, 14q12, and 14q32), where loci for the Ig and TCR genes are located. A molecular study was carried out on peripheral blood and bone marrow samples from both patients using Southern blot and PCR for Ig and TCR genes. A monoclonal population for TCRγ was observed in one of the two affected children, but only in peripheral blood.