Yao-Shan Fan and a panel of senior scientists and pioneering researchers describe in step-by-step style the leading FISH techniques and those molecular technologies beyond FISH available for diagnostic services in genetics and oncology. The methods include labeling FISH probes for DNA and RNA targets, fluorescence genotyping, CGH microarray, spectral karyotyping/multicolor FISH, and primed in situ labeling. There are also techniques for multicolor fiber FISH, multi-telomere FISH, prenatal diagnosis using maternal blood, and preimplantation diagnosis. Oncological methods include simultaneous fluorescence immunophenotyping and FISH for leukemia and lymphoma, HER2 amplification in breast cancer, and CAC/PAC for cancer cytogenetics.

Part I. Basic Concepts and Techniques Molecular Cytogenetics in Medicine: An Overview Yao-Shan Fan Labeling Fluorescence In Situ Hybridization Probes for Genomic Targets Larry E. Morrison, Ramesh Ramakrishnan, Teresa M. Ruffalo, and Kim A. Wilber Labeling Fluorescence In Situ Hybridization Probes for RNA Targets Ramesh Ramakrishnan and Larry E. Morrison Basic FISH Techniques and Troubleshooting Sue Van Stedum and Walter King Part II. Evolving Techniques and Applications Chromosome Microdissection Xin-Yuan Guan Primed In Situ Labeling Jørn Koch Spectral Karyotyping Jane Bayani and Jeremy A. Squire Multicolor FISH Syed M. Jalal and Mark E. Law Characterization of Constitutional Chromosome Abnormalities by Comparative Genomic Hybridization Brynn Levy and Kurt Hirschhorn Color Banding Vicki L. Hopwood, Christi J. Hada, and Armand B. Glassman Multicolor Fiber FISH Jaennelle Kraan, Anne R. M. von Bergh, Karin Kleiverda, Jan-Willem Vaandrager, Ekaterina S. Jordanova, Anton K. Raap, Philip M. Kluin, and Ed Schuuring Multi-Telomere FISH Samantha J. L. Knight and Jonathan Flint Fluorescence Genotyping for Screening Cryptic Telomeric Rearrangements Laurence Colleaux, Solange Heuertz, Florence Molinari, and Marlene Rio Microarray CGH, Ben Beheshti, Paul C. Park, Ilan Braude, and Jeremy A. Squire Part III. Special Applications in Chromosomal Disorders Molecular Approaches for Delineating Marker Chromosomes Michael D. Graf and Stuart Schwartz Interphase FISH for Prenatal Diagnosis of Common Aneuploidies Baruch Feldman, Ayala Aviram-Goldring, and Mark I. Evans Prenatal Diagnosis of Chromosomal Abnormalities Using Maternal Blood, Farideh Z. Bischoff, Dianne X. Dang, Dorothy E. Lewis, and Joe Leigh Simpson Preimplantation FISH Diagnosis of Aneuploidies Yury Verlinsky, Jeanine Cieslak, and Anver Kuliev Microdeletion Syndromes: Characteristics and Diagnosis Stuart Schwartz and Michael D. Graf Molecular Detection of Uniparental Disomy Wendy P. Robinson Molecular Cytogenetics in Reproductive Pathology Hélène Bruyère, Evica Rajcan-Separovic, and Dagmar K. Kalousek Part IV. Special Applications in Oncology Interphase FISH Studies of Chronic Myeloid Leukemia, Gordon W. Dewald Chromogenic In Situ Hybridization and FISH in Pathology Bae-Li Hsi, Sheng Xiao, and Jonathan A. Fletcher FISH Detection of HER2 Amplification in Breast Cancer Rosemary E. Mueller and Frances P. O'Malley Comparative Genomic Hybridization in Cancer Investigations Marjan M. Weiss, Mario A. J. A. Hermsen, Gerrit A. Meijer, and Paul J. van Diest Simultaneous Fluorescence Immunophenotyping and FISH on Tumor Cells Yanming Zhang and Brigitte Schlegelberger BAC Resource for Molecular Cytogenetics Xiao-Ning Chen and Julie R. Korenberg Index