A brother and sister are reported with developmental delay and facial features suggestive of the Cornelia de Lange syndrome. Cytogenetic analysis showed them to be trisomic for the region 3q25.1-26.2 because of the inheritance of an unbalanced interchromosomal insertion from their father, who was a balanced insertion carrier. The clinical phenotype and cytogenetic analysis (including chromosome...

INTRODUCTION Imatinib mesylate, a selective Bcr-Abl tyrosine kinase inhibitor, has proved to be most effective therapy of Philadelphia chromosome-positive chronic myelogenous leukemia. Imatinib induces complete haematological and cytogenetic response in high percentage of patients. OBJECTIVE The aim of this study was to identify potential prognostic factors before beginning treatment with ima...

BACKGROUND Although knowledge of the genetics of diffuse large B-cell lymphoma (DLBCL) has been increasing, little is known about the characteristics and prognostic significance of cytogenetic abnormalities and the clinical utility of cytogenetic studies performed on bone marrow (BM) specimens. To investigate the significance of isolated cytogenetic aberrations in the absence of histologic BM i...

Background & Objective: Soft tissue sarcomas (STS) constitute an uncommon and heterogeneous group of tumors of mesenchymal origin and various cytogenetic abnormalities ranging from distinct genomic rearrangements, such as chromosomal translocations and amplifications, to more intricate rearrangements involving multiple chromosomes. Fluorescence in situ...

Despite multiple disparate prognostic risk analysis systems for evaluating clinical outcome for patients with myelodysplastic syndrome (MDS), imprecision persists with such analyses. To attempt to improve on these systems, an International MDS Risk Analysis Workshop combined cytogenetic, morphological, and clinical data from seven large previously reported risk-based studies that had generated ...

Granulocytic sarcoma is a rare complication of leukaemia. Occasionally it presents before the development of systemic leukaemia when diagnosis may be difficult. A case of granulocytic sarcoma occurring in a patient with no overt evidence of leukaemia, but in whom cytogenetic analysis of the bone marrow showed a clonal t(12;13) translocation, is reported. Cytogenetic analysis of tissues in this ...

We have used DNA hybridization techniques employing restriction fragment length polymorphisms (RFLPs) to quantitate the level of donor cell engraftment in bone marrow transplantation recipients. The genetic origin of the bone marrow cells and various peripheral blood populations was analyzed in 14 patients. We found at least one informative polymorphism for each donor-recipient pair. Additional...