Table Of ContentCytogenetics and
Molecular Cytogenetics
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 diffcult, 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.
KEY FEATURES
• Provides clear summaries of fuorescence 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
Medical Genomics and Proteomics
Series Editors
Scott O. Rogers
Science publisher
Charles R. Crumly—CRC Press/Taylor & Francis Group
Published Titles
Molecular Analyses
Edited by Scott O. Rogers
Cytogenetics and Molecular Cytogenetics
Edited by Thomas Liehr
For more information about this series, please visit: www.routledge.com/Medical-
Genomics-and-Proteomics/book-series/CRCMOLGENPRO
Cytogenetics and
Molecular Cytogenetics
Edited by
Thomas Liehr
Legend for fgure in titlepage:
Central white Figure part consists (from left to right) of: Two schemes showing multicolor-banding
and chromosomal translocations were provided by Leon Liehr (Jena, Germany; https://leonliehr.
jimdofree.com/), the partial M-FISH karyogramm, the interphase nucleus and the chromosomal
microarray fgures are derived from chapters 14 (part of 1), 6 (part of 1D) and 21 (part of 2A),
respectively.
First Edition published 2023
by CRC Press
6000 Broken Sound Parkway NW, Suite 300, Boca Raton, FL 33487–2742
and by CRC Press
4 Park Square, Milton Park, Abingdon, Oxon, OX14 4RN
CRC Press is an imprint of Taylor & Francis Group, LLC
© 2023 selection and editorial matter, Thomas Liehr; individual chapters, the contributors
Reasonable efforts have been made to publish reliable data and information, but the author and
publisher cannot assume responsibility for the validity of all materials or the consequences of
their use. The authors and publishers have attempted to trace the copyright holders of all material
reproduced in this publication and apologize to copyright holders if permission to publish in this
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Library of Congress Cataloging‑in‑Publication Data
Names: Liehr, Thomas, 1965-editor.
Title: Cytogenetics and molecular cytogenetics / edited by Thomas Liehr.
Description: First edition. | Boca Raton : CRC Press, 2023. | Series: Medical genomics and
proteomics | Includes bibliographical references and index.
Identifers: LCCN 2022026812 (print) | LCCN 2022026813 (ebook) | ISBN 9781032121628
(hardback) | ISBN 9781032122212 (paperback) | ISBN 9781003223658 (ebook)
Subjects: LCSH: Cytogenetics. | Molecular genetics.
Classifcation: LCC QH441.5 .C98 2023 (print) | LCC QH441.5 (ebook) | DDC 572.8—dc23/
eng/20220713
LC record available at https://lccn.loc.gov/2022026812
LC ebook record available at https://lccn.loc.gov/2022026813
ISBN: 978-1-032-12162-8 (hbk)
ISBN: 978-1-032-12221-2 (pbk)
ISBN: 978-1-003-22365-8 (ebk)
DOI: 10.1201/9781003223658
Typeset in Times
by Apex CoVantage, LLC
To my two teachers in Human Genetics and Chromosomics:
Prof. Erich Gebhart (Erlangen, Germany), who showed
to me the importance of publishing results, and
Prof. Uwe Claussen (Jena, Germany), who was
a role model for unconventional thinking.
Contents
Series Preface............................................................................................................xi
Scott O. Rogers
Preface.................................................................................................................... xiii
Acknowledgements..................................................................................................xv
Editor .....................................................................................................................xvii
List of Contributors.................................................................................................xix
Chapter 1 Cytogenetics and Chromosomics.........................................................1
Thomas Liehr
Chapter 2 Banding Cytogenetics ..........................................................................7
Hongyan Chai and Peining Li
Chapter 3 Generation of Microdissection-Derived Painting Probes from
Single Copy Chromosomes................................................................27
Svetlana Romanenko and Vladimir Trifonov
Chapter 4 FISH—An Overview.......................................................................... 35
Thomas Liehr
Chapter 5 FISH—Microscopy and Evaluation...................................................43
Ivan Y. Iourov
Chapter 6 FISH—in Routine Diagnostic Settings..............................................49
Chenghua Cui and Peining Li
Chapter 7 FISH—in Leukemia Diagnostics.......................................................71
Roberto Matos, Mariana de Souza, Gerson Ferreira,
Amanda Figueiredo, Marcelo Land and Maria Luiza Silva
Chapter 8 FISH—in Tissues............................................................................. 105
Thomas Liehr
Chapter 9 FISH—in Human Sperm and Infertility.......................................... 111
Martina Rincic and Thomas Liehr
vii
viii Contents
Chapter 10 FISH—in Spontaneously Aborted Products of Conception ............ 117
Thomas Liehr
Chapter 11 FISH—Characterization of Chromosomal Alterations,
Recombination, and Outcomes after Segregation............................ 121
Ilda Patrícia Ribeiro, Eunice Matoso, Joana Barbosa Melo,
Ana Jardim, Thomas Liehr and Isabel Marques Carreira
Chapter 12 Multicolor-FISH—Methods and Applications................................. 151
Thomas Liehr
Chapter 13 FISH—Centromere- and Heterochromatin-Specifc
Multicolor Probe Sets.......................................................................157
Thomas Liehr
Chapter 14 FISH—Detection of Individual Radio Sensitivity........................... 163
Thomas Liehr
Chapter 15 FISH—Detection of CNVs .............................................................. 171
Tigran Harutyunyan, Anzhela Sargsyan
and Rouben Aroutiounian
Chapter 16 FISH—Interphase Applications Including Detection of
Chromosome Instability (CIN) ........................................................ 181
Ivan Y. Iourov, Svetlana G. Vorsanova and Yuri B. Yurov
Chapter 17 FISH—Determination of Telomere Length
(Q-FISH/CO-FISH).......................................................................... 189
Gordana Joksić, Jelena Filipović Tričković and Ivana Joksić
Chapter 18 FISH—in Three Dimensions—3D-FISH ........................................ 201
Thomas Liehr
Chapter 19 FISH—On Fibers.............................................................................207
Thomas Liehr
Chapter 20 FISH—and Single-Cell Gel Electrophoresis Assay
(Comet Assay) .................................................................................. 211
Galina Hovhannisyan, Tigran Harutyunyan
and Rouben Aroutiounian
Contents ix
Chapter 21 Molecular Karyotyping....................................................................225
Ilda Patrícia Ribeiro, Luís Miguel Pires, Susana Isabel Ferreira,
Mariana Val, Joana Barbosa Melo and Isabel Marques Carreira
Chapter 22 FISH—Mitochondrial DNA ............................................................ 251
Tigran Harutyunyan
Chapter 23 FISH—in Birds ................................................................................263
Rafael Kretschmer, Michelly da Silva dos Santos, Ivanete de
Oliveira Furo, Edivaldo Herculano Correa de Oliveira
and Marcelo de Bello Cioff
Chapter 24 FISH—in Fish Chromosomes..........................................................281
Francisco de M. C. Sassi, Gustavo A. Toma
and Marcelo de Bello Cioff
Chapter 25 FISH—and the Characterization of Synaptonemal Complex..........297
Victor Spangenberg
Chapter 26 RNA-FISH—on Lampbrush Chromosomes: Visualization of
Individual Transcription Units .........................................................307
Tatiana Kulikova and Alla Krasikova
Chapter 27 FISH—in Insect Chromosomes....................................................... 319
Vladimir E. Gokhman and Valentina G. Kuznetsova
Chapter 28 FISH—in Plant Chromosomes......................................................... 339
Susan Liedtke, Sarah Breitenbach and Tony Heitkam
Chapter 29 FISH—and CRISPR/CAS9 .............................................................. 353
Thomas Liehr
Index...................................................................................................................... 357
