Aspects of Human Genetics With Special Reference to X-Linked Disorders

Transcription

1 Aspects of Human Genetics With Special Reference to X-Linked Disorders

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3 Selected Papers from the Symposium on X-Linked Diseases held by the European Society of Human Genetics at C. E. Ramón y Cajal, Madrid, September 29 October 2, 1982 Aspects of Human Genetics With Special Reference to X-Linked Disorders Editors C. San Román Cos-Gayόn, Madrid Α. McDermott, Bristol 29 figures and 23 tables, 1984 S. Karger Basel München Paris London 'New York Tokyo Sydney

4 National Library of Medicine, Cataloging in Publication Symposium on X-Linked Diseases (1982: C. E. Ramdn y Cajal) Aspects of human genetics. With special reference to X-linked disorders/ editors, C. San Román Cos-Gaydn, A. McDermott. Basel; New York: Karger, "Selected Papers from the Symposium on X-Linked Diseases held by the European Society of Human Genetics at C. E. Ramdn y Cajal, Madrid, September 29 - October 2, 1982." 1. Genetics, Medical - congresses 2. Hereditary Diseases - prevention & control - congresses 3. Sex Chromosome Abnormalities - familial & genetic - congresses 4. Sex Chromosomes - congresses I. San Román Cos-Gaydn, C. (Carlos) II. McDermott, A. (Alan) III. European Society of Human Genetics IV. Title ISBN Drug Dosage The author and publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any change in ώndícatiοns and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. All rights reserved No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, mícrocopyíng, or by any information storage and retrieval system, without permission in writing from the publisher. Copyright 1984 by S.Karger AG, P.O. Box, CH-4009 Basel (Switzerland) Printed in Switzerland by Merkur AG, Langenthal ISBN

5 Contents Acknowledgement Preface VII IΧ Galjaard, H. (Rotterdam): Early Diagnosis and Prevention of Genetic Disease 1 Robson, E. B. (London): The X-Chromosome in Human Gene Mapping 16 Fryns, J. P.; Van Den Berghe, H. (Leuven): X-Linked Mental Retardation and Fragile (Χq27) Site 33 Van Roy, B. C.; De Smedt, M. C.; Raes, R. A.; Leroy, J. G.; Dumon, J. E. (Wilrijk) The fra (X) Phenomenon Observations on Phenotypic Correlation 40 Schmidt, A.; Passarge, Ε. (Essen): Lack of Clinical Differences in X-Linked Mental Retardation with and without Expression of the Fragile Site Χq27 48 McDermott, A. (Bristol): More on the Fragile X: With Particular Reference to Fibroblast and Amniotic Fluid Cell Culture, and X-Inactivation 53 de la Concha, E. G.; Zabay, J. M.; Garcia Rodriguez, M. C.; Fontdn, G. (Madrid): Χ- Linked Immunodeficiencies 62 Veltkamp. J. J.; Bertina, R. M.; Briët, Ε.; Muller, H. P.; Terwiel, J. Ph. (Leiden): X- Linked Coagulation Disorders 70 de Unamuno, P. (Salamanca): X-Linked Ichthyosis 77 Strdmgren, Ε.; Nielsen, J. (Risskov): Genetics of Affective Disorders with Special Regard to the Possibility of X-Linked Inheritaπce 91 Murube-del-Castillo, J. (Madrid): Ocular Sex-Linked Diseases. Detachment of Retina, Nystagmus with Polyzygatria 98 Biihler, E. M. (Basel): Formal Analysis of the Y Chromosome 106 Wolf, U. (Freiburg): Immunological Basis of Gonad Differentiation 119 de la Chapelle, A.; Savikurki, H. (Helsinki); Herva, R. (Oulu); Tippen, P. A. (London); Knutar, F. (Vasa); Gröhn, P. (Helsinki); Siponen, H. (Kuopio); Hunvinen, K. (Helsinki); Korkonen, T. (Kuopio): Aetiological Studies in Males with the Karyotype 46,ΧΧ. 125

6 Contents VI Müller, U.; Mayerova, A. (Freiburg); Fraccaro, M. (Pavia): The Permanently Active (Putative) Regulatory Gene of H-Υ Antigen on Distal Χρ is Inactivated in a Patient with an X-Autosome Translocation 143 Ropers, H.-H.; Müller, C. R. (Freiburg): A Search for Χγ Homology 150 Subject Index 157

7 Acknowledgement The members and participants of the European Society of Human Genetics acknowledge their gratitude to the organizing committee of the Symposium on X-linked diseases, held at the C. E. Ramón y Cajal, Madrid, 29 September-2 Oktober 1982, and to the FISS (Fondos de Investigación de la Seguridad Social) for the financial support of the symposium and the publication of this book. Organizing committee: Carlos San Román Cos-Gayόn María Teresa Sordo Concepción Estévez Pilar Ferrando Maria Teresa Ferro Jose Miguel Garcia Sagredo Alicia Quintana María Guzmán

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9 Preface Recent years have seen the transformation of human genetics from a predominantly academic to an extensively applied science, through the wider introduction of genetic counselling and the application of prenatal diagnostic techniques towards the prevention of an increasing number of genetic diseases. The subject embraces many different technical, scientific and clinical disciplines, and it is difficult to select topics for a Symposium which adhere to a single theme. The principal theme of the Madrid Symposium was an up-to-date review of hereditary conditions or phenomena which are associated with genes on the sex chromosomes, particularly the X chromosome. This is reflected in the selection of topics presented in this book which include comprehensive reviews of the current state of gene mapping of the X and Y chromosomes, developments in X-linked mental retardation, and other X-linked disorders from diverse clinical disciplines, including immunodeficiencies, coagulation defects, ichthyosis, eye diseases and affective disorders. There are also related papers on the immunological basis of gonad differentiation, studies on 46,XX males, the H-Υ antigen and H-Y chromosome homology. It is appropriate, however, that the opening chapter presents a succinct review of the progress which has already been made towards the early detection and prevention of genetic disease and considers some of the consequent implications of these advances. Carlos San Román Alan McDermott

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