Fanconi Anemia Clinical, Cytogenetic and Experimental Aspects
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A. D.Auerbach
Fanconi Anemia Clinical, Cytogenetic and Experimental Aspects
With 69 Figures in 122 Separate Illustrations
Springer-Verlag Berlin Heidelberg New York London Paris Tokyo
Professor Dr. med. Traute M.Schroeder-Kurth Institut fUr Humangenetik und Anthropologie der Universitat Heidelberg 1m Neuenheimer Feld 328 0-6900 Heidelberg 1 Federal Republic of Germany Arleen D. Auerbach, Ph. D. Laboratory for Investigative Dermatology The Rockefeller University 1230 York Avenue New York, NY 10021-6399, USA Professor Dr. Giinter Obe Universitat Gesamthochschule Essen Fachbereich 9 Genetik UniversitatsstraBe 5 0-4300 Essen 1 Federal Republic of Germany
ISBN-13: 978-3-642-74181-4 001: 10.1007/978-3-642-74179-1
e-ISBN-13: 978-3-642-74179-1
Library of Congress Cataloging·in-Publication Data Fanconi anemia: clinical, cytogenetic, and experimental aspects 1 T. M.Schroeder-Kurth, A. D.Auerbach, G.Obe (eds.). p. cm. Includes index. (U.S.) 1. Fanconi's anemia. I. Schroeder-Kurth, T. M. (Traute M.), 1930- II. Auerbach, A. D. (Arleen D.), 1937- . III . Obe, G. RC641.7.F36F36 1989 616.1'52--dc19 88-38914 CIP This work is subject to copyright. All rights are reserved, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, re-use of illustrations, recitation, broadcasting, reproduction on microfilms or in other ways, and storage in data banks. Duplication of this publication or parts thereof is only permitted under the provisions of the German Copyright Law of September 9, 1965, in its version of June 24, 1985, and a copyright fee must always be paid. Violations fall under the prosecution act of the German Copyright Law. © Springer-Verlag Berlin Heidelberg 1989 Softcover reprint of the hardcover I st edition 1989 The use of general descriptive names, trade marks, etc. in this publication, even if the former are not especially identified, is not to be taken as a sign that such names, as understood by the Trade Marks and Merchandise Marks Act, may accordingly be used freely by anyone. Product Liability: The publisher can give no guarantee for information about drug dosage and application thereof contained in this book. In every individual case the respective user must check its accuracy by consulting other pharmaceutical literature. 2127/3145-543210 - Printed on acid-free paper
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Preface
Sixty years ago, G. Fanconi published a paper entitled: "Familiiire infantile pemiziosaartige Aniimie (pemizioses Blutbild und Konstitution)", in which he reported that this type of severe aplastic anemia
represents a hereditary disease distinct from other pancytopenias of childhood (Fanconi 1927). Later this syndrome was named Fanconi anemia (FA; van Leeuwen 1933). A more recent study of the genetics of FA confirmed that the syndrome is inherited in an autosomal recessive manner (Schroeder et al. 1976). Prenatal diagnosis in FA families showed that about 25% of fetuses are affected (Auerbach et al. 1985, 1986).
In 1964, Schroe
