Patient Organizations in Connection with UPD
As demonstrated by the multiple personal case reports, UPD patients and/or parents of UPD carriers may be distressed after receiving the aberrant cytogenetic result. In this situation, they are in need of reliable specialist support. In addition to help f
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Uniparental Disomy (UPD) in Clinical Genetics A Guide for Clinicians and Patients
Uniparental Disomy (UPD) in Clinical Genetics
Thomas Liehr UNIQUE •
Uniparental Disomy (UPD) in Clinical Genetics A Guide for Clinicians and Patients With Contributions by Unique
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Thomas Liehr Institut für Humangenetik Universitätsklinikum Jena Jena Germany
UNIQUE The Rare Chromosome Disorder Support Group Caterham, Surrey UK
ISBN 978-3-642-55287-8 ISBN 978-3-642-55288-5 DOI 10.1007/978-3-642-55288-5 Springer Heidelberg New York Dordrecht London
(eBook)
Library of Congress Control Number: 2014937951 Springer-Verlag Berlin Heidelberg 2014 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. Exempted from this legal reservation are brief excerpts in connection with reviews or scholarly analysis or material supplied specifically for the purpose of being entered and executed on a computer system, for exclusive use by the purchaser of the work. Duplication of this publication or parts thereof is permitted only under the provisions of the Copyright Law of the Publisher’s location, in its current version, and permission for use must always be obtained from Springer. Permissions for use may be obtained through RightsLink at the Copyright Clearance Center. Violations are liable to prosecution under the respective Copyright Law. 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. While the advice and information in this book are believed to be true and accurate at the date of publication, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warranty, express or implied, with respect to the material contained herein. Author’s Disclaimer: The clinical details given for specific chromosomal imbalances, mutations and epigenetic changes (UPD), including such regions causing, according to present knowledge, no harm, represent the presently available data. They can be used for interpretation of molecular and cytogenetic findings—however, there are always exceptions from the findings to be expected. Some are described in this book. Thus, please use this information carefully! The author does not take any responsibility for (mis)interpretation of the data provided in this book. Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com)
Preface
Uniparental disomy (
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