منابع مشابه
Bloom ’ s syndrome
Key-words Disease name/synonyms Definition Differential diagnosis Etiology Clinical description Diagnostic methods Epidemiology Genetic counseling Antenatal diagnosis Management including treatment Unresolved questions References Abstract Bloom’s syndrome (BS) is a rare human autosomal recessive disorder belonging to a group of “chromosomal breakage syndromes”. BS is characterized by marked gen...
متن کاملChromosomal study of Bloom syndrome: Report of a case
Bloom syndrome is a rare autosomal recessive genetic disorder, which is characterized by telangiectasia and erythema in the butterfly area of the face, dwarfism and photosensitivity. The case presented herein is a 22-year-old man who referred with facial erythema and telangiectasia (Resembling lupus erythematosus). The skin lesions were exacerbating during summer. Other clinical findings were p...
متن کاملBloom Syndrome Helicase Promotes Meiotic Crossover Patterning and Homolog Disjunction
In most sexually reproducing organisms, crossover formation between homologous chromosomes is necessary for proper chromosome disjunction during meiosis I. During meiotic recombination, a subset of programmed DNA double-strand breaks (DSBs) are repaired as crossovers, with the remainder becoming noncrossovers [1]. Whether a repair intermediate is designated to become a crossover is a highly reg...
متن کاملStructural alterations of DNA ligase I in Bloom syndrome.
Cell lines derived from seven patients with Bloom syndrome all contain a DNA ligase I with unusual properties. Six lines were shown to have a reduced level of this enzyme activity and the residual enzyme was anomalously heat-labile. The seventh line contained a dimeric rather than monomeric form of ligase I. Several cell lines representative of other inherited human syndromes have apparently no...
متن کاملElevated spontaneous mutation rate in Bloom syndrome fibroblasts.
The rates of spontaneous mutation to 6-thioguanine resistance were determined in fibroblasts derived from normal and two Bloom syndrome individuals (GM 2548 and GM 1492). Two methods were utilized to determine the rates. Method I obtained the spontaneous mutation rate from the increase in the mutation frequency of a cell population in logarithmic-phase growth over 10 days. The two Bloom syndrom...
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ژورنال
عنوان ژورنال: Atlas of Genetics and Cytogenetics in Oncology and Haematology
سال: 2011
ISSN: 1768-3262
DOI: 10.4267/2042/38199