title: The cytogenetics of ataxia telangiectasia.
abstract: 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.
authors.affiliation: Jules Stein Eye Institute, Los Angeles, CA 90024-7008.
authors.forename: T L
authors.initials: TL
authors.lastname: Kojis
authors.forename: R A
authors.initials: RA
authors.lastname: Gatti
authors.forename: R S
authors.initials: RS
authors.lastname: Sparkes
mesh_terms: D001260:Ataxia Telangiectasia / Q000235:genetics*; D002869:Chromosome Aberrations; D007446:Chromosome Inversion; D002883:Chromosomes, Human, Pair 14; D002897:Chromosomes, Human, Pair 7; D004260:DNA Repair; D006801:Humans; D008214:Lymphocytes; D016615:Telomere; D014178:Translocation, Genetic