title: Cytogenetic and molecular studies of siblings with ataxia telangiectasia followed for 7 years.
abstract: 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 TCH 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 TCR gamma was observed in one of the two affected children, but only in peripheral blood.
authors.affiliation: Department of Genetics, Jimenez Díaz Foundation, Madrid, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Renedo
authors.forename: M
authors.initials: M
authors.lastname: Robledo
authors.forename: E
authors.initials: E
authors.lastname: Arranz
authors.forename: F
authors.initials: F
authors.lastname: Infantes
authors.forename: A
authors.initials: A
authors.lastname: Roman
authors.forename: J
authors.initials: J
authors.lastname: Garcia-Yebenes
authors.forename: J
authors.initials: J
authors.lastname: Benitez
mesh_terms: D000293:Adolescent; D000328:Adult; D001260:Ataxia Telangiectasia / Q000235:genetics*; D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D008297:Male; D009679:Nuclear Family