title: [Down syndrome: pathogenesis, radioresistant DNA synthesis and chromosomal instability].
abstract: Down syndrome (DS) is a frequent chromosomal aberration. Triplication of the fragment 21q22 of chromosome 21 is sufficient to cause the DS phenotype including immunodeficiency, premature aging, mental retardation, and an increased risk of leukemia. Chromosomal aberrations caused by X-ray irradiation were observed in DS lymphocytes and DS fibroblasts, but the correlation between chromosomal sensitivity, repair deficiency, and radioresistant DNA synthesis was not clear. Here some insight into the nature of this problem has been made. Besides, new arguments have been provided in favour of genetic heterogeneity of this genetic disorder.
authors.affiliation: Institute of Cytology RAS, St. Petersburg.
authors.forename: L S
authors.initials: LS
authors.lastname: Barenfel'd
mesh_terms: D002869:Chromosome Aberrations; D002891:Chromosomes, Human, Pair 21 / Q000528:radiation effects; D004247:DNA / Q000096:biosynthesis / Q000528:radiation effects; D004260:DNA Repair; D004314:Down Syndrome / Q000209:etiology* / Q000235:genetics* / Q000503:physiopathology; D005347:Fibroblasts / Q000378:metabolism / Q000528:radiation effects; D006801:Humans; D008214:Lymphocytes / Q000378:metabolism / Q000528:radiation effects; D010641:Phenotype
chemical_list: D004247:DNA