Advances in Human Genetics

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CONTRIBUTORS TO THIS VOLUME J. I. 8ell

H. O. McDevitt

Nuffield Department of Clinical Medicine University of Oxford John Radcliffe Hospital Headington, Oxford, United Kingdom

Department of Microbiology and Immunology Stanford University School of Medicine Stanford, Galifomia

Maimon M. Cohen

John A. Phililips III

Division of Human Genetics Departments of Obstetrics and Gynecology and Pediatrics School of Medicine and The Medical Biotechnology Center Maryland Biotechnology Institute University of Maryland Baltimore, Maryland

Department of Pediatrics Vanderbilt University School of Medicine Nashvillf;, Tennessee

M. Michael Cohen, Jr. Department of Oral Biology, Faculty of Dentistry Department of Pediatrics, Faculty of Medicine Dalhousie University Halifax, Nova Scotia, Canada

Howard P. Levy Division of Human Genetics Departments of Obstetrics and Gynecology and Pediatrics School of Medicine and The Medical Biotechnology Center Maryland Biotechnology Institute University of Maryland Baltimore, Maryland

Brian H. Robinson Departments of Pediatrics and Biochemistry University of Toronto and Th,e Research Institute Hospital for Sick Children Toronto, Ontario, Canada

J. A. Todd Nuffield Departments of Clinical Medicine and Surgery University of Oxford John Radcliffe Hospi~1 Headington, Oxford, United Kingdom

Cindy L. Vnencak-Jones Department of Pediatrics Vanderbilt University School of Medicine Nashville, Tennessee

A Continuation Order Plan is available for this series. A continuation order will bring delivery of each new volume immediately upon publication. Volumes are billed only upon actual shipment. For further information please contact the publisher.

ADVANCES IN HUMAN GENETICS

1 ••

Edited by

Harry Harris Harnwell Professor of Human Genetics University of Pennsylvania, Philadelphia

and

Kurt Hirschhorn Herbert H. Lehman Professor and Chairman of Pediatrics Mount Sinai School of Medicine of The City University of New York

PLENUM PRESS. NEW YORK AND LONDON

The Library of Congress catalogued the first volume of this title' as follows: Advances in human genetics. 1New York, Plenum Press, 1970(1) v. iIIus. 24-cm. Editors: V. 1H. Harris and K. Hirschhorn. 1. Human genetics-Collected works. I. Harris, Harry, ed. II. Hirschhorn, Kurt, 1926joint ed. 573.2'1 77-84583 QH431.A1A32

ISBN ·13: 978·1·4612-8081·1

DOl: 10.1007/978-1·4613-0785·3

e-ISBN-13: 978·1·4613-0785·3

© 1989 Plenum Press, New York Softcover reprint of the hardcover 1st edition 1989 A Division of Plenum Publishing Corporation 233 Spring Street, New York, N.Y. 10013 All rights reserved No part of this book may be reproduced, stored in a retrieval system, or transmilted in any form or by any means, electronic, mechanical, photocopying, microfilming, recording, or otherwise, without written permission from the Publisher

ARTICLES PLANNED FOR FUTURE VOLUMES Biochemical Defects in Immunodeficiency. Rochelle Hirschhorn The Lethal Osteochondrodysplasias • Jurgen Spranger and P. Maroteaux Advances in Prenatal Genetic Diagnosis. John C. Hobbi