Multicolor FISH in Human Cytogenetics: Reprint of: Cytogenetic and Genome Research 2006, Vol. 114, No. 3-4

This special issue focuses on the recent developments in the exciting and continuously progressing field of human multicolor fluorescence in situ hybridisation (mFISH), highlighting the advantages, applications and possible limitations of this technique. Today, mFISH assays are indispensable for the precise characterization of complex chromosome rearrangements and numerical chromosome aberrations. In a first, more technically oriented part, the main mFISH-techniques (M-FISH, SKY, COBRA) are reviewed and their applications described. In the second part, world experts in the field discuss the multitude of presently available techniques and present their latest findings based on the use of mFISH in tumor cytogenetics, clinical genetics and basic investigations. The most recent studies employing mFISH in the diagnosis of leukemia, lymphoma and solid tumors are included as are preimplantation, pre- and postnatal clinical genetic studies using interphase-mFISH probe sets, FISH-banding and DNA-array techniques. Since structurally rearranged marker chromosomes have implications for hereditary and acquired diseases, chromosomal breakpoints are characterized and evaluated. This unique, comprehensive and up-to-date volume will be a valuable resource for (molecular) cytogeneticists, genetic counsellors, cell biologists, geneticists, reproductive scientists, obstetricians, pediatricians, oncologists and hematologists.

Table of Contents:
Preface: Liehr, T.; Techniques; Multiplex-FISH (M-FISH): technique, developments and applications: Kearney, L.; Spectral karyotyping of human, mouse, rat and ape chromosomes - applications for genetic diagnostics and research: Schrock, E. et al.; COmbined Binary RAtio fluorescence in situ hybridiziation (COBRA-FISH): development and applications: Raap, A.K.; Tanke, H.J.; Combined multicolor-FISH and immunostaining: Ye, C.J. et al.; Proof of partial imbalances 6q and 11q due to maternal complex balanced translocation analyzed by microdissection of multicolor labeled chromosomes (FISH-MD) in a patient with Dandy-Walker variant: Weimer, J. et al.; Multicolor fluorescence in situ hybridization (FISH) applied to FISH-banding: Liehr, T. et al.; Multicolor chromosome bar codes: Muller, S.; Wienberg, J.; Multicolor banding technique, spectral color banding (SCAN): new development and applications: Kakazu, N.; Abe, T.; Cryptic terminal chromosome rearrangements in colorectal carcinoma cell lines detected by subtelomeric FISH analysis: Stewenius, Y. et al.; Multicolor PRINS and multicolor PNA: Pellestor, F. et al.; Applications in Tumor Genetics; Multicolor-FISH applied to resolve complex chromosomal changes in a case of T-ALL (FAB L2): Mkrtchyan, H. et al.; Characterization of chromosomal aberrations in diffuse large B-cell lymphoma (DLBL) by G-banding and spectral karyotyping (SKY): Adam, P. et al.; Multicolor fluorescence in situ hybridization (M-FISH) on cells from urine for the detection of bladder cancer: Junker, K. et al.; Molecular cytogenetic characterization of chromosome 9-derived material in a human thyroid cancer cell line: Weier, H.-U.G. et al.; Cytogenetic characteristics of a murine in vitro model for the human anaplastic large cell lymphoma (ALCL): Rudolph, C. et al.; Applications in Clinical Genetics; Interphase M-FISH applications using commercial probes in prenatal and PGD diagnostics: Stumm, M. et al.; Molecular cytogenetic studies towards the full karyotype analysis of human blastocysts and cytotrophoblasts: Weier, J.F. et al.; Studying meiosis: a review of FISH and M-FISH techniques used in the analysis of meiotic processes in humans: Oliver-Bonet, M. et al.; Multicolor FISH used for the characterization of small supernumerary marker chromosomes (sSMC) in commercially available immortalized cell lines: Brecevic, L. et al.; Molecular cytogenetic identification and characterization of a de novo supernumerary neocentromeric derivative chromosome 13: Tonnies, H. et al.; Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face: Sarri, C. et al.; Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies: Thienpont, B. et al.; De novo structural chromosomal imbalances: molecular cytogenetic characterization of partial trisomies: Dufke, A. et al.; Duplications of proximal 16q flanked by hetero-chromatin are not euchromatic variants and show no evidence of heterochromatic position effect: Barber, J.C.K. et al.; A retrospective study of preimplantation embryos diagnosed with monosomy by fluorescence in situ hybridization (FISH): Cooper, M.L. et al.; Special Applications; Towards many colors in FISH on 3D-preserved interphase nuclei: Walter, J. et al.; Rearrangements of chromosome 18 illustrate the utility of array-based comparative genomic hybridization: Kashork, C.D. et al..