Disease associated balanced chromosome rearrangements (DBCRs) have been instrumental in the isolation of many disease genes. To facilitate the molecular cytogenetic characterisation of DBCRs, we have generated a set of >1200 nonchimeric, cytogenetically and genetically anchored CEPH YACs, on average one per 3 cM, spaced over the entire human genome. By fluorescence in situ hybridisation (FISH),...

Over the last 20 years, a number of tumor-specific chromosomal translocations and associated fusion genes have been identified for mesenchymal neoplasms including adipocytic tumors. The addition of molecular cytogenetic techniques, especially fluorescence in situ hybridization (FISH), has further enhanced the sensitivity and accuracy of detecting nonrandom chromosomal translocations and/or othe...

OBJECTIVES Mantle cell lymphoma in situ (MCLIS) consists of immunophenotypically defined but histologically inapparent neoplastic cells restricted to narrow mantle zones, without expansion or invasion beyond the mantle zone. We report a unique case of MCLIS associated with a much more manifest nodal marginal zone lymphoma (MZL) in an inguinal lymph node, porta hepatis lymph node, and bone marro...

Fluorescence in situ hybridization (FISH) of specific DNA probes has become a widely used technique mostly for chromosome analysis and for studies of the chromosomal location of specific DNA segments in metaphase preparations as well as in interphase nuclei. FISH on 3D-preserved nuclei (3D-FISH) in combination with 3D-microscopy and image reconstruction is an efficient tool to analyze the spati...

Spectral fluorescence in situ hybridization (S-FISH) is a novel molecular cytogenetic approach that detects multiple disease-specific chromosomal aberrations in interphase nuclei using combinatorial fluorescence and digital imaging microscopy. A panel of six centromeric probes for chromosomes 7, 8, 9, 10, X, and Y, using a unique two-dye combination of four fluorophores, was developed to assess...

BACKGROUND AND OBJECTIVE Cross-species color banding (RxFISH) is a new FISH technology based on the use of differentially labeled gibbon chromosome probes to obtain a specific color banding pattern for each human chromosome. The aim of the study was to test the RxFISH technique for better characterization of complex karyotypes in patients with T-prolymphocytic leukemia (T-PLL). DESIGN AND MET...

Microarray-based cytogenetics is revealing the tremendous fluidity and complexity of the human genome, and is starting to illustrate the implications of genomic variability with respect to human health and disease. In the last few years, the robustness of array-based technologies has provided accurate diagnosis and appropriate clinical management ...

 Abstract  Background: Mosaic form of turner syndrome that represented by two or more  cell lines in an affected individual, often has limitation for detection with classical  cytogenetic methods. The present study was carried out to compare the efficiency of  interphase Fluorescence In Situ Hybridisation (FISH) and cytogenetic techniques in  detection of mosaic form of turner syndrome.  Method...