Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis
This new edition now titled “Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis” provides the reader with an up-to-date overview of microarrays, fragile sites, copy number variations and whole genome sequencing. Greatly expanding th
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Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis Second Edition
Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis
Herman E. Wyandt Golder N. Wilson Vijay S. Tonk •
Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis Second Edition
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Herman E. Wyandt Genesys Diagnostics, Inc. Oakdale, CT USA Golder N. Wilson Department of Pediatrics Texas Tech University Health Sciences Center Lubbock, TX USA
ISBN 978-981-10-3034-5 DOI 10.1007/978-981-10-3035-2
Vijay S. Tonk Department of Pediatrics Texas Tech University Health Sciences Center Lubbock, TX USA
ISBN 978-981-10-3035-2
(eBook)
Library of Congress Control Number: 2017930279 1st edition: © Springer Science+Business Media B.V. 2012 2nd edition: © Springer Nature Singapore Pte Ltd. 2017 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Printed on acid-free paper This Springer imprint is published by Springer Nature The registered company is Springer Nature Singapore Pte Ltd. The registered company address is: 152 Beach Road, #21-01/04 Gateway East, Singapore 189721, Singapore
Foreword
Early experience in medicine quickly teaches the importance and challenges of knowing what is normal. Comparisons between symmetrical body parts, similar to side-by-side chromosome pairs, may help distinguish the difference between normal variation and abnormal findings. The greater the depth of detail in chromosome and copy number variant [CNV] analyses, the more difficult it has become to differentiate the polymorphic from the pathogenic change. Many claims of pathogenic variants have been revised and been re-classified as benign or of uncertain significance. The key theme of this important text aims to focus on the key distinction between pathogenic CNVs and chromosomal polymorphisms. Microdeletions, and less so for microduplications, may be associated with
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