Cytogenetic investigations in a new case of Bloom's syndrome.
Cytogenetic studies of an 8-year-old caucasian girl with typical but mild manifestation of Bloom's syndrome showed a characteristic increase of homologous chromatid translocations and prematurely condensed chromosomes. The average frequency of sister chromatid exchanges (SCE) in lymphocytes with 133 was much higher than in skin fibroblasts with 49. The inter- and intrachromosomal distributions of SCE in lymphocytes were analyzed.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002842:Chromatids; D002869:Chromosome Aberrations; D003434:Crossing Over, Genetic; D003582:Cytogenetics; D005148:Facial Dermatoses / Q000235:genetics*; D005260:Female; D005347:Fibroblasts / Q000166:cytology; D006801:Humans; D008214:Lymphocytes / Q000166:cytology; D008938:Mitosis; D011123:Polyploidy; D013684:Telangiectasis / Q000235:genetics*