Medline ® Abstract for Reference 16
The cytogenetics of ataxia telangiectasia.
Kojis TL, Gatti RA, Sparkes RS
Cancer Genet Cytogenet. 1991;56(2):143.
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.
Jules Stein Eye Institute, Los Angeles, CA 90024-7008.