6 research outputs found

    The genetics of fragile X-linked mental retardation

    Full text link

    A comparative analysis of the karyotypes of three dolphins – Tursiops truncatus Montagu, 1821, Tursiops australis Charlton-Robb et al., 2011, and Grampus griseus Cuvier, 1812

    Get PDF
    The aim of this study is to produce G-banded karyotypes of three dolphin species, Tursiops truncatus Montagu, 1821, Tursiops australis Charlton-Robb et al., 2011, and Grampus griseus Cuvier, 1812, and to determine if any differences between the species can be observed. Monolayer skin cultures were established and processed for chromosome study by trypsin banding. The results indicate that the three species here investigated have the same diploid number (2n = 44) and very similar gross chromosome morphology, however G-banding allows distinction between each species. Chromosome 1 in G. griseus is significantly different from the other 2 species, and chromosome 2 in T. australis is subtly different from the other 2 species. This result is of potential significance in taxonomic studies, and can provide an unequivocal answer in the assessment of suspected hybrids between these species

    FISH Detection of PML-RARA Fusion in ins(15;17) Acute Promyelocytic Leukaemia Depends on Probe Size

    Get PDF
    The diagnosis of acute promyelocytic leukaemia (APL) is usually confirmed by cytogenetics showing the characteristic t(15;17), but a minority of patients have a masked PML/RARA fusion. We report ten patients with APL and no evidence of the t(15;17), in whom the insertion of RARA into PML could not be demonstrated by initial FISH studies using a standard dual fusion probe but was readily identified using smaller probes. Given the need for rapid diagnosis of APL, it is important to be aware of the false negative rate for large PML/RARA FISH probes in the setting of masked rearrangements

    International workshop on the fragile X and X-linked mental retardation

    No full text

    Deoxyribonucleoside triphosphate levels: A critical factor in the maintenance of genetic stability

    No full text
    corecore