Manual of Cytogenetics in Reproductive Biology Pankaj Talwar
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1MANUAL OF CYTOGENETICS IN REPRODUCTIVE BIOLOGY2
3MANUAL OF CYTOGENETICS IN REPRODUCTIVE BIOLOGY
Chief Editor Col Pankaj Talwar VSM Professor Obstetrics & Gynecology and Head of the Department Assisted Reproductive Technologies Center INHS Asvini, Mumbai, Maharashtra, India
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Manual of Cytogenetics in Reproductive Biology
First Edition: 2014
9789350909928
Printed at
5Dedication
I dedicate this book to my father Mr Mohinder Pal Talwar and mother Mrs Madhu Talwar for their guidance and constant support rendered to me. Such monumental work would not have been possible without their blessings and encouragement. I sincerely thank my wife Dr (Mrs) Neetu Talwar and my children Pratik and Arjun, for giving me unfailing support and encouragement during compilation of the book. It was their unflinching motivation and enthusiasm, which gave me impetus to move ahead in trying times, which I faced during the scripting of the book. I am also grateful to our patients who in many ways have been our best teachers
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7Contributors
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11Preface
The field of reproductive medicine and clinical embryology has expanded over the past few years. With the advancements in the field of assisted reproductive technologies, our understanding of the reproductive medicine has progressed manifold.
Along with this increase in the knowledge of basic reproductive sciences and pioneering work being done in this field, advanced equipment and culture media have been developed. Today, molecular cytogenetics plays an important role in the outcome of assisted reproductive technologies and has presently become an essential diagnostic tool for the reproductive biologists, medical geneticists, genetic counselors, pediatricians, gynecologists, fetomaternal specialists and oncologists. Traditional cytogenetics has now been amalgamated with the DNA analysis. This is often referred to as “molecular cytogenetics” and represents the single most significant advance in this field in decades and is considered as a fundamental part of the emblematic cytogenetics.
Manual of Cytogenetics in Reproductive Biology is divided into six sections. The first section provides the historical perspective and explanation of the concepts involved in molecular cytogenetics including a detailed description of cytogenetic nomenclature. The section also covers the basics of microscopy and cell structure to simplify the further discussions. The second section is an overview of the various investigative technologies. Peripheral karyotyping and polymerase chain reaction (PCR) techniques are highlighted for easy understanding of the busy reproductive biologists. The purpose of this section is to provide a fundamental understanding of the basic molecular-cytogenetic techniques. The third section comprises the main focus of the book and covers nearly all the burning issues in our field as pertaining to the human chromosomes. The fourth section covers various aspects of recent advances in cytogenetics. Various recombinant technologies and essential aspects of gene therapy are well documented for the readers. The fifth section covers the essential cytogenetics as applied to the field of preimplantation genetic diagnosis. The final section deals with the prenatal cytogenetics and covers various aspects of the early fetal diagnosis.
I gratefully acknowledge the hard work by my colleagues who have authored various chapters of the book. I also thank our publisher for supporting this academic effort of our team.
Please feel free to communicate with us, if you need any clarifications or have any suggestions.
Col Pankaj Talwar VSM
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13Acknowledgments