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The Gale Encyclopedia of Genetic Disorders PDF

691 Pages·2002·6.82 MB·English
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GALE The ENCYCLOPEDIA of Genetic Disorders GALE The ENCYCLOPEDIA of Genetic Disorders VOLUME 1 A-L STACEY L. BLACHFORD, EDITOR The GALE ENCYCLOPEDIA of GENETIC DISORDERS STAFF Since this page cannot legibly accommodate all copyright notices,the acknowledgments constitute an extension of the copyright notice. Stacey L. Blachford,Associate Editor While every effort has been made to ensure the reliability of the infor- mation presented in this publication,the Gale Group neither guarantees Christine B. Jeryan,Managing Editor the accuracy of the data contained herein nor assumes any responsibil- Melissa C. McDade,Associate Editor ity for errors,omissions or discrepancies. The Gale Group accepts no Ellen Thackery,Associate Editor payment for listing,and inclusion in the publication of any organiza- tion, agency, institution, publication, service, or individual does not Mark Springer,Technical Training Specialist imply endorsement of the editors or publisher. Errors brought to the Andrea Lopeman,Programmer/Analyst attention of the publisher and verified to the satisfaction of the publisher will be corrected in future editions. Barbara Yarrow,Manager,Imaging and Multimedia This book is printed on recycled paper that meets Environmental Content Protection Agency standards. Robyn Young,Project Manager,Imaging and The paper used in this publication meets the minimum requirements of Multimedia Content American National Standard for Information Sciences-Permanence Randy Bassett,Imaging Supervisor Paper for Printed Library Materials,ANSI Z39.48-1984. Robert Duncan,Senior Imaging Specialist This publication is a creative work fully protected by all applicable Pamela A. Reed,Coordinator,Imaging and Multimedia copyright laws,as well as by misappropriation,trade secret,unfair com- Content petition,and other applicable laws. The authors and editors of this work have added value to the underlying factual material herein through one Maria Franklin,Permissions Manager or more of the following:unique and original selection,coordination, expression,arrangement,and classification of the information. Ryan Thomason,Permissions Associate Lori Hines,Permissions Assistant Gale Group and design is a trademark used herein under license. All rights to this publication will be vigorously defended. Kenn Zorn,Product Manager Copyright © 2002 Michelle DiMercurio,Senior Art Director Gale Group 27500 Drake Road Mary Beth Trimper,Manager,Composition and Farmington Hills,MI 48331-3535 Electronic Prepress All rights reserved including the right of reproduction in whole or in Evi Seoud,Assistant Manager,Composition Purchasing part in any form. and Electronic Prepress ISBN 0-7876-5612-7 (set) Dorothy Maki,Manufacturing Manager 0-7876-5613-5 (Vol. 1) 0-7876-5614-3 (Vol. 2) Ronald D. Montgomery,Manager,Data Capture Printed in the United States of America Gwendolyn S. Tucker,Project Administrator 10 9 8 7 6 5 4 3 2 1 Beverly Jendrowski,Data Capture Specialist Indexing provided by:Synapse. Illustrations created by: Library of Congress Cataloging-in-Publication Data Argosy,West Newton,Massachusetts The Gale encyclopedia of genetic disorders / Stacey L. Blachford, associate editor. Electronic Illustrators Group,Morgan Hill,California p. cm. Includes bibliographical references and index. Summary:Presents nearly four hundred articles describing genetic disorders,conditions,tests,and treatments,including high-profile diseases such as Alzheimer’s,breast cancer,and heart disease. ISBN 0-7876-5612-7 (set :hardcover :alk.paper 1. Genetic disorders—Encyclopedias,Juvenile. [1. Genetic disorders—Encyclopedias. 2. Diseases—Encyclopedias.] I. Blachford,Stacey. RB155.5 .G35 2001 616’.042’03—dc21 2001040100 CONTENTS Introduction vii . . . . . . . . . . . . . . . . . . . . . . . . . Advisory Board xi . . . . . . . . . . . . . . . . . . . . . . Contributors xiii . . . . . . . . . . . . . . . . . . . . . . . . Entries Volume 1:A-L . . . . . . . . . . . . . . . . . . . . . .1 Volume 2:M-Z . . . . . . . . . . . . . . . . . . . .691 Appendix Symbol Guide for Pedigree Charts . . . . . .1231 Chromosome Map . . . . . . . . . . . . . . . . .1233 Organizations List . . . . . . . . . . . . . . . . .1241 Glossary 1259 . . . . . . . . . . . . . . . . . . . . . . . . . . General Index 1311 . . . . . . . . . . . . . . . . . . . . . GALE ENCYCLOPEDIA OF GENETIC DISORDERS v PLEASE READ—IMPORTANT INFORMATION The Gale Encyclopedia of Genetic Disorders is a any kind,including without limitation,warranties of mer- medical reference product designed to inform and educate chantability or fitness for a particular purpose,nor does it readers about a wide variety of disorders, conditions, guarantee the accuracy,comprehensiveness,or timeliness treatments, and diagnostic tests. Gale Group believes the of the information contained in this product. Readers product to be comprehensive, but not necessarily defini- should be aware that the universe of medical knowledge is tive. It is intended to supplement,not replace,consultation constantly growing and changing,and that differences of with a physician or other health care practitioner. While medical opinion exist among authorities. They are also Gale Group has made substantial efforts to provide infor- advised to seek professional diagnosis and treatment for mation that is accurate, comprehensive, and up-to-date, any medical condition, and to discuss information the Gale Group makes no representations or warranties of obtained from this book with their health care provider. GALE ENCYCLOPEDIA OF GENETIC DISORDERS vii INTRODUCTION The Gale Encyclopedia of Genetic Disorders is a made up of seven medical and genetic experts,evaluated unique and invaluable source for information regarding the topics and made suggestions for inclusion. Final diseases and conditions of a genetic origin. This collec- selection of topics to include was made by the advisory tion of nearly 400 entries provides in-depth coverage of board in conjunction with Gale Group editors. disorders ranging from exceedingly rare to very well- known. In addition, several non-disorder entries have ABOUT THE CONTRIBUTORS been included to facilitate understanding of common genetic concepts and practices such as Chromosomes, The essays were compiled by experienced medical Genetic counseling,and Genetic testing. writers, primarily genetic counselors, physicians, and other health care professionals. The advisors reviewed This encyclopedia avoids medical jargon and uses the completed essays to insure they are appropriate, up- language that laypersons can understand,while still pro- to-date,and medically accurate. viding thorough coverage of each disorder medical pro- fessionals will find beneficial as well. The Gale Encyclopedia of Genetic Disorders fills a gap between HOW TO USE THIS BOOK basic consumer health resources, such as single-volume The Gale Encyclopedia of Genetic Disorders has family medical guides,and highly technical professional been designed with ready reference in mind. materials. (cid:127) Straight alphabetical arrangement of topics allows Each entry discussing a particular disorder follows a users to locate information quickly. standardized format that provides information at a glance. The rubric used was: (cid:127) Bold-faced termsdirect the reader to related articles. (cid:127) Definition (cid:127) Cross-referencesplaced throughout the encyclopedia point readers to where information on subjects with- (cid:127) Description out entries may be found. (cid:127) Genetic profile (cid:127) A list of key termsare provided where appropriate to (cid:127) Demographics define unfamiliar terms or concepts. Additional terms may be found in the glossaryat the back of volume 2. (cid:127) Signs and symptoms (cid:127) The Resources section directs readers to additional (cid:127) Diagnosis sources of medical information on a topic. (cid:127) Treatment and management (cid:127) Valuable contact information for organizations and (cid:127) Prognosis support groups is included with each entry. The (cid:127) Resources appendix contains an extensive list of organizations arranged in alphabetical order. (cid:127) Key terms (cid:127) A comprehensive general indexguides readers to all topics and persons mentioned in the text. INCLUSION CRITERIA A preliminary list of diseases and disorders was GRAPHICS compiled from a wide variety of sources, including pro- fessional medical guides and textbooks, as well as con- The Gale Encyclopedia of Genetic Disorders con- sumer guides and encyclopedias. The advisory board, tains over 200 full color illustrations, including photos GALE ENCYCLOPEDIA OF GENETIC DISORDERS ix n and pedigree charts. A complete symbol guide for the duced by permission. Congenital heart defects©Simon o ti pedigree charts can be found in the appendix. Fraser/Science Photo Library/Photo Researchers, Inc. c u Reproduced by permission. Conjoined twins©Siebert/ d o Custom Medical Stock Photo. Reproduced by permis- r nt ACKNOWLEDGEMENTS sion. Corneal dystrophy © Gilman/Custom Medical I The editor would like to thank the following individ- Stock Photo. Reproduced by permission. Cystic fibrosis uals for their assistance with the Gale Encyclopedia of © 1992 Michael English, M. D. Custom Medical Stock Genetic Disorders:Deepti Babu,MS CGC,Dawn Jacob, Photo. Reproduced by permission. Depression © NIH/ MS, and Jennifer Neil, MS CGC, for the creation of the Science Source, National Audubon Society Collection/ pedigree charts found in entries throughout the main Photo Researchers, Inc. Reproduced with permission. body; K. Lee and Brenda Lerner for their assistance in Diabetes mellitus © 1992 Science Photo Library/ compiling and reviewing most of the non-disorder entries Custom Medical Stock Photo. Reproduced by permis- in this encyclopedia; and to Connie Clyde, Kyung sion. Down syndrome ©A. Sieveing. A. Sieveing/Petit Kalasky, Beth Kapes, Monique Laberge, PhD, and Lisa Format/Photo Researchers, Inc. Reproduced by permis- Nielsen for their extensive assistance with the final phase sion. Dysplasia © Biophoto/Photo Researchers, Inc. of manuscript preparation. Reproduced by permission. Ehler-Danlos syndrome © NMSB/Custom Medical Stock Photo. Reproduced by permission. Encephalocele © Siebert/Custom Medical PHOTO ACKNOWLEDGEMENTS Stock Photo. Reproduced by permission. Epidermolysis All photographs and illustrations throughout the bullosa © M. English/Custom Medical Stock Photo. Gale Encyclopedia of Genetic Disorders have been Reproduced by permission. Fragile X syndrome reproduced by permission from the source noted in each © Siebert/Custom Medical Stock Photo. Reproduced by caption. Special acknowledgement is given to the pho- permission. Gene mapping©Sinclair Stammers. Photo tographers of photographs found in the following entries: Researchers, Inc. Reproduced by permission. Gene Achondroplasia © David Frazier/Photo Researchers, mutation © Joseph R. Siebert. Custom Medical Stock Inc. Reproduced by permission. Acromegaly©NMSB/ Photo. Reproduced by permission. Gene pool © Gerald Custom Medical Stock Photo. Reproduced by permis- Davis/Phototake NYC. Reproduced with permission. sion. Albinism © Norman Lightfoot. National Audubon Gene therapy © 1995, photograph by James King. Society Collection/Photo Researchers, Inc. Reproduced /SPL/Custom Medical Stock Photo. Reproduced by per- by permission. Alzheimer disease © Alfred Pasieka. mission. Gene therapy © Philippe Plailly. National SPL/Photo Researchers,Inc. Reproduced by permission. Audubon Society Collection/Photo Researchers, Inc. Amniocentesis © Will and Demi McIntyre. National Reproduced by permission. Genetic disorders©NMSB/ Audubon Society Collection/Photo Researchers, Inc. Custom Medical Stock Photo. Reproduced by permis- Reproduced by permission. Ankylosing spondylitis sion. Genetic testing © Phillippe Plailly. Science Photo © P. Marazzi. SPL/Photo Researchers, Inc. Reproduced Library, National Audubon Society Collection/Photo by permission. Apert syndrome©Ansary/Custom Med- Researchers,Inc. Reproduced by permission. Glaucoma ical Stock Photo. Reproduced by permission. Asthma © 1995 Science Photo Library, Western Ophthalmic ©1993 B.S.I.P./ Custom Medical Stock Photo. Repro- Hospital/Science Photo Library. Custom Medical Stock duced by permission. Attention deficit hyperactivity Photo. Reproduced by permission. Goltz syndrome disorder©Robert J. Huffman. Field Mark Publications. ©L I,Inc./Custom Medical Stock Photo. Reproduced by Reproduced by permission. Bicuspid aortic valve permission. Hair loss syndrome © NMSB/Custom © Roseman/Custom Medical Stock Photo. Reproduced Medical Stock Photo. Reproduced by permission. Hemo- by permission. Cancer©Nina Lampen. Science Source/ philia © Bates/Custom Medical Stock Photo. Repro- Photo Researchers, Inc. Reproduced by permission. duced by permission. Hydrocephalus © Lester V. Cerebral palsy © Will McIntyre. W. McIntyre/Photo Bergman/Corbis. Reproduced by permission. Ichthyosis Researchers, Inc. Reproduced by permission. Chromo- © NMSB/Custom Medical Stock Photo. Reproduced by somes©CNRI/Science Photo Library. Photo Researchers, permission. Inheritance © Biophoto Associates/Photo Inc. Reproduced by permission. Cleft lip and palate Researchers, Inc. Reproduced by permission. Joubert © NMSB/Custom Medical Stock Photo. Reproduced by syndrome © Gary Parker. SPL/Photo Researchers, Inc. permission. Clubfoot © Science Source, National Reproduced by permission. Karyotype©Science Photo Audubon Society Collection/Photo Researchers, Inc. Library/Custom Medical Stock Photo. Reproduced by Reproduced with permission. Coloboma © P. Marazzi. permission. Liver cancer © CNRI/Photo Researchers, SPL/Photo Researchers,Inc. Reproduced by permission. Inc. Reproduced by permission. McKusick-Kaufman Color blindness © Lester V. Bergman/Corbis. Repro- syndrome © Thomas B. Hollyman, Science Source/ x GALE ENCYCLOPEDIA OF GENETIC DISORDERS Photo Researchers. Reproduced by permission. Meckel Murti. National Audubon Society Collection/Photo I n diverticulum © 1991, photograph. NMSB/Custom Researchers,Inc. Reproduced by permission. Sickle cell tr o Medical Stock Photo. Reproduced by permission. Nar- anemia©1995 Science Photo Library. Custom Medical du colepsy©Bannor/Custom Medical Stock Photo. Repro- Stock Photo. Reproduced by permission. Spina bifida ct io duced by permission. Olser-Rendu-Weber syndrome © Biophoto Associates, National Audubon Society n © P. Marazzi. SPL/Photo Researchers, Inc. Reproduced Collection/Photo Researchers, Inc. Reproduced by per- by permission. Oral-facial-digital syndrome©Photog- mission. Stein-Leventhal syndrome©P. Marazzi. SPL/ raphy by Keith. Custom Medical Stock Photo. Repro- Photo Researchers, Inc. Reproduced by permission. duced by permission. Osteogenesis imperfecta Stomach cancer © Science Photo Library/Custom Medical Stock Photo. Reproduced by permission. © Joseph Siebert, Ph. D. Custom Medical Stock Photo. Sturge-Weber syndrome © Mehau Kulyk. SPL/Photo Reproduced by permission. Osteoperosis©1993 Patrick Researchers, Inc. Reproduced by permission. Suther- McDonnel. Custom Medical Stock Photo. Reproduced land-Haan syndrome © Biophoto Associates/Photo by permission. Otopalatodigital syndrome©Biophoto Researchers,Inc. Reproduced by permission. Tay-Sachs Associates/Science Source/Photo Researchers, Inc. disease © 1992 IMS Creative/Graph/Photo. Custom Reproduced by permission. Pancreatic cancer © John Medical Stock Photo. Reproduced by permission. Bavosi/Science Photo Library. Custom Medical Stock Thalassemia © John Bavosi. SPL/Photo Researchers, Photo. Reproduced by permission. Polycystic kidney Inc. Reproduced by permission. Triose phosphate iso- disease © A. Glauberman. Photo Researchers, Inc. merase © photograph. NMSB/Custom Medical Stock Reproduced by permission. Porphyrias © Ansary/ Photo. Reproduced by permission. Trisomy 13 © 1992 Custom Medical Stock Photo. Reproduced by permis- Ralph C. Eagle, M.D./Photo Researchers, Inc. Repro- sion. Potter syndrome©Siebert/Custom Medical Stock duced by permission. Trisomy 18©Department of Clin- Photo. Reproduced by permission. Progeria © NMSB/ ical Cytogenetics,Addenbrookes Hospital/Science Photo Custom Medical Stock Photo. Reproduced by permis- Library/Photo Researchers, Inc. Reproduced by permis- sion. Prostate cancer © Dr. P. Marazzi. Photo sion. Tuberous sclerosis © LI Inc./Custom Medical Researchers, Inc. Reproduced by permission. Prune Stock Photo. Reproduced by permission. Turner syn- belly syndrome©Ansary/Custom Medical Stock Photo. drome © NMSB/Custom Medical Stock Photo. Repro- Reproduced by permission. Raynaud disease © 1997, duced by permission. Usher syndrome©L. Steinmark. photograph. P. Stocklein/Custom Medical Stock Photo. Custom Medical Stock Photo. Reproduced by permis- Reproduced by permission. Retinitis pigmentosa©Sci- sion. Werner syndrome © NMSB/Custom Medical ence Photo Library/Custom Medical Stock Photo. Repro- Stock Photo. Reproduced by permission. Wilson disease duced by permission. Scleroderma © Dr. P. Marazzi. ©Science Photo Library/Photo Researchers,Inc. Repro- Photo Researchers, Inc. Reproduced by permission. duced by permission. Zygote © Dr. Yorgos Nikas/ Scoliosis©NMSB/Custom Medical Stock Photo. Repro- Science Photo Library/Photo Researchers, Inc. Repro- duced by permission. Sickle cell anemia © Dr. Gopal duced by permission. GALE ENCYCLOPEDIA OF GENETIC DISORDERS xi ADVISORY BOARD An advisory board comprised of genetic specialists from a variety of backgrounds provided invaluable assistance in the for- mulation of this encyclopedia. This advisory board performed a myriad of duties, from defining the scope of coverage to reviewing individual entries for accuracy and accessibility. We would therefore like to express our sincere thanks and appre- ciation for all of their contributions. Stephen Braddock,MD Consultant Psychotherapist in Private Practice Assistant Professor Lathrup Village,Michigan Director,Missouri Teratogen Information Service Katherine Hunt,MS (MOTIS) Senior Genetic Counselor/Lecturer Division of Medical Genetics School of Medicine University of Missouri-Columbia School of University of New Mexico Medicine Albuquerqe,New Mexico Columbia,Missouri Richard McCartney,MD Cynthia R. Dolan,MS CGC Diplomat,American Board of Surgery Clinical Director/Genetic Counselor Fellow,American College of Surgeons Inland Northwest Genetic Clinic Richland,Washington Spokane,Washington Associate Editor William K. Scott,PhD GeneClinics:Clinical Genetics Information Assistant Research Professor Resource Center for Human Genetics University of Washington School of Medicine Duke University Medical Center Seattle,Washington Durham,North Carolina Laith Farid Gulli,MD Roger E. Stevenson,MD MSc,MSc(MedSci),MSA,MscPsych,MRSNZ Director FRSH,FRIPHH,FAIC,FZS Greenwood Genetic Center DAPA,DABFC,DABCI Greenwood,South Carolina GALE ENCYCLOPEDIA OF GENETIC DISORDERS xiii

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The rapid progress in genetic research, including the completion of the Human Genome Project, made a new edition of The Gale Encyclopedia of Genetic Disorders a necessity. Compiled by genetic counselors, physicians, and medical writers, the encyclopedia explains genetic and congenital disorders in l
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