Kojis T L, Gatti R A, Sparkes R S
Jules Stein Eye Institute, Los Angeles, CA 90024-7008.
Cancer Genet Cytogenet. 1991 Oct 15;56(2):143-56. doi: 10.1016/0165-4608(91)90164-p.
Ataxia-telangiectasia (AT) is a heterogeneous autosomal recessive disorder marked by cerebellar ataxia, oculocutaneous telangiectases, hypersensitivity to ionizing radiation, immunodeficiency, and cancer susceptibility. AT is also a spontaneous chromosomal breakage syndrome, notable for tissue-specific cytogenetic changes and telomeric fusions. Molecular characterization of rearrangements specific to T-lymphocytes suggests that a DNA repair/processing defect is potentially responsible for the diverse array of chromosomal abnormalities observed in a variety of AT cell types.
