1st Edition

Cytogenetics and Molecular Cytogenetics

Edited By Thomas Liehr Copyright 2023
    382 Pages 40 Color & 20 B/W Illustrations
    by CRC Press

    382 Pages 40 Color & 20 B/W Illustrations
    by CRC Press

    Genomic technologies provide the means of diagnosis and management of many human diseases. Without insights from cytogenetics, correct interpretation of modern high-throughput results is difficult, if not impossible. This book summarizes applications of cytogenetics and molecular cytogenetics for students, clinicians and researchers in genetics, genomics and diagnostics. The book combines the state-of-the-art knowledge and practical expertise from leading researchers and clinicians and provides a comprehensive overview of current medical and research applications of many of these technologies.


    • Provides clear summaries of fluorescence in situ hybridization technologies and others

    • Comprehensively covers established and emerging methods

    • Chapters from an international team of leading researchers

    • Useful for students, researchers and clinicians

    Series Preface

    Scott O. Rogers




    List of Contributors

    Chapter 1 Cytogenetics and Chromosomics

    Thomas Liehr

    Chapter 2 Banding Cytogenetics

    Hongyan Chai and Peining Li

    Chapter 3 Generation of Microdissection-Derived Painting Probes from Single Copy Chromosomes

    Svetlana Romanenko and Vladimir Trifonov

    Chapter 4 FISH—An Overview

    Thomas Liehr

    Chapter 5 FISH—Microscopy and Evaluation

    Ivan Y. Iourov

    Chapter 6 FISH—in Routine Diagnostic Settings

    Chenghua Cui and Peining Li

    Chapter 7 FISH—in Leukemia Diagnostics

    Roberto Matos, Mariana de Souza, Gerson Ferreira, Amanda Figueiredo, Marcelo Land and Maria Luiza Silva

    Chapter 8 FISH—in Tissues

    Thomas Liehr

    Chapter 9 FISH—in Human Sperm and Infertility

    Martina Rincic and Thomas Liehr

    Chapter 10 FISH—in Spontaneously Aborted Products of Conception

    Thomas Liehr

    Chapter 11 FISH—Characterization of Chromosomal Alterations, Recombination, and Outcomes after Segregation

    Ilda Patrícia Ribeiro, Eunice Matoso, Joana Barbosa Melo, Ana Jardim, Thomas Liehr and Isabel Marques Carreira

    Chapter 12 Multicolor-FISH—Methods and Applications

    Thomas Liehr

    Chapter 13 FISH—Centromere- and Heterochromatin-Specific Multicolor Probe Sets

    Thomas Liehr

    Chapter 14 FISH—Detection of Individual Radio Sensitivity

    Thomas Liehr

    Chapter 15 FISH—Detection of CNVs

    Tigran Harutyunyan, Anzhela Sargsyan and Rouben Aroutiounian

    Chapter 16 FISH—Interphase Applications Including Detection of Chromosome Instability (CIN)

    Ivan Y. Iourov, Svetlana G. Vorsanova and Yuri B. Yurov

    Chapter 17 FISH—Determination of Telomere Length (Q-FISH/CO-FISH)

    Gordana Joksić, Jelena Filipović Tričković and Ivana Joksić

    Chapter 18 FISH—in Three Dimensions—3D-FISH

    Thomas Liehr

    Chapter 19 FISH—On Fibers

    Thomas Liehr

    Chapter 20 FISH—and Single-Cell Gel Electrophoresis Assay (Comet Assay)

    Galina Hovhannisyan, Tigran Harutyunyan and Rouben Aroutiounian

    Chapter 21 Molecular Karyotyping

    Ilda Patrícia Ribeiro, Luís Miguel Pires, Susana Isabel Ferreira, Mariana Val, Joana Barbosa Melo and Isabel Marques Carreira

    Chapter 22 FISH—Mitochondrial DNA

    Tigran Harutyunyan

    Chapter 23 FISH—in Birds

    Rafael Kretschmer, Michelly da Silva dos Santos, Ivanete de Oliveira Furo, Edivaldo Herculano Correa de Oliveira and Marcelo de Bello Cioffi

    Chapter 24 FISH—in Fish Chromosomes

    Francisco de M. C. Sassi, Gustavo A. Toma and Marcelo de Bello Cioffi

    Chapter 25 FISH—and the Characterization of Synaptonemal Complex

    Victor Spangenberg

    Chapter 26 RNA-FISH—on Lampbrush Chromosomes: Visualization of Individual Transcription Units

    Tatiana Kulikova and Alla Krasikova

    Chapter 27 FISH—in Insect Chromosomes

    Vladimir E. Gokhman and Valentina G. Kuznetsova

    Chapter 28 FISH—in Plant Chromosomes

    Susan Liedtke, Sarah Breitenbach and Tony Heitkam

    Chapter 29 FISH—and CRISPR/CAS9

    Thomas Liehr



    Thomas Liehr is working in human genetics since 1991. He is biologist by education and head of the molecular cytogenetic group in Jena, Germany. Research fields include clinical genetics, leukemia cytogenetics and interphase structure of human chromosomes. The results of his research are published in >10 books, ~100 book chapter, ~800 referred papers, and ~1000 abstracts. His particular expertise includes small supernumerary marker chromosomes (sSMC), chromosomal heteromorphisms and uniparental disomy – see ChromosOmics databases (http://cs-tl.de/DB.html). He is active member of the European Board of Medical Genetics and received multiple prices, two invited professorships and a Dr.h.c. as summarized at http://cs-tl.de/.