The clinical and cellular phenotype of ataxia telangiectasia (AT) has been extensively documented in numerous patients of different ethnic groups and is characterized by several specific laboratory hallmarks, such as chromosomal instability, profound radiosensitivity and radioresistant DNA synthesis. Several recent reports have, however, shown variations on this theme. This article describes 2 Turkish siblings with AT, who showed a typical but somewhat more prolonged clinical course of the disease and altered characteristics of fibroblast cells, compared to the 'classical' AT cellular phenotype. Fibroblast strains derived from these patients showed a normal cellular life span, moderate degrees of chromosomal instability and sensitivity to the lethal effects of X-rays and neocarzinostatin, and lack of radioresistant DNA synthesis. A compilation of the literature on 'AT variants' and 'AT-like' syndromes shows that in addition to the internal variability of AT, this disease occupies a limited segment within a large spectrum of clinical and cellular features, which are common to a variety of syndromes. Each of these syndromes covers a different segment in this spectrum. The genetic basis of this family of disorders might be complex.