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Vol. 114, No. 3-4, 2006
Issue release date: August 2006
Cytogenet Genome Res 114:199–221 (2006)

Spectral karyotyping of human, mouse, rat and ape chromosomes – applications for genetic diagnostics and research

Schrock E. · Zschieschang P. · O’Brien P. · Helmrich A. · Hardt T. · Matthaei A. · Stout-Weider K.
aInstitut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden (Germany); bDepartment of Clinical Veterinary Medicine, Centre for Veterinary Science, Veterinary Cytogenetics Group, Madingley Road, Cambridge (UK); cInstitut de Génétique et de Biologie Moléculaire et Cellulaire, CU de Strasbourg, Illkirch (France); dInstitut für Medizinische Genetik, Charité – Universitätsmedizin Berlin, Campus Virchow-Klinikum, Berlin (Germany)

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Spectral karyotyping (SKY) is a widely used methodology to identify genetic aberrations. Multicolor fluorescence in situ hybridization using chromosome painting probes in individual colors for all metaphase chromosomes at once is combined with a unique spectral measurement and analysis system to automatically classify normal and aberrant chromosomes. Based on countless studies and investigations in many laboratories worldwide, numerous new chromosome translocations and other aberrations have been identified in clinical and tumor cytogenetics. Thus, gene identification studies have been facilitated resulting in the dissection of tumor development and progression. For example, different translocation partners of the TEL/ETV6 transcription factor that is specially required for hematopoiesis within the bone marrow were identified. Also, the correct classification of complex karyotypes of solid tumors supports the prognostication of cancer patients. Important accomplishments for patients with genetic diseases, leukemias and lymphomas, mesenchymal tumors and solid cancers are summarized and exemplified. Furthermore, studies of disease mechanisms such as centromeric DNA breakage, DNA double strand break repair, telomere shortening and radiation-induced neoplastic transformation have been accompanied by SKY analyses. Besides the hybridization of human chromosomes, mouse karyotyping has also contributed to the comprehensive characterization of mouse models of human disease and for gene therapy studies.

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Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
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