The Gale Encyclopedia of Genetic Disorders is a unique and invaluable source for information regarding diseases and conditions of a genetic origin. This collection of over 430 entries provides in-depth coverage of disorders ranging from the exceedingly rare to the very well-known. In addition, several non-disorder entries have been included to facilitate understanding of common genetic concepts and practices such as Chromosomes, Genetic counseling, and Genetic testing.
This encyclopedia avoids medical jargon and uses language that laypersons can understand, while providing the thorough coverage of each disorder that medical professionals will also find beneficial. The Gale Encyclopedia of Genetic Disorders fills a gap between basic consumer health resources, such as single-volume family medical guides, and highly technical professional materials.
Each entry discussing a particular disorder follows a standardized format that provides information at a glance. The rubrics used are:
- Genetic profile
- Signs and symptoms
- Treatment and management
- Key terms
A preliminary list of diseases and disorders was compiled from a wide variety of sources, including professional medical guides and textbooks, as well as consumer guides and encyclopedias. The advisory board, made up of seven medical and genetic experts, evaluated the topics and made suggestions for inclusion. Final selection of topics to include was made by the advisory board in conjunction with Thomson Gale editors.
ABOUT THE CONTRIBUTORS
The essays were compiled by experienced medical writers, primarily genetic counselors, physicians, and other health care professionals. The advisors reviewed the completed essays to insure they are appropriate, upto-date, and medically accurate.
HOW TO USE THIS BOOK
The Gale Encyclopedia of Genetic Disorders has been designed with ready reference in mind.
- Straight alphabetical arrangement of topics allows users to locate information quickly.
- Bold-faced terms direct the reader to related articles.
- Cross-references placed throughout the encyclopedia point readers to where information on subjects without entries may be found.
- A list of key terms is provided where appropriate to define unfamiliar terms or concepts. Additional terms may be found in the glossary at the back of volume 2.
- The Resources section directs readers to additional sources of medical information on a topic.
- Valuable contact information for organizations and support groups is included with each entry. The appendix contains an extensive list of organizations arranged in alphabetical order.
- A comprehensive general index guides readers to all topics and persons mentioned in the text.
The Gale Encyclopedia of Genetic Disorders contains over 200 full-color illustrations, including photos and pedigree charts. A complete symbol guide for the
The editor would like to thank the following individuals for their assistance with the Gale Encyclopedia of Genetic Disorders: Deepti Babu, MS CGC, Dawn Jacob, MS, and Jennifer Neil, MS CGC, for the creation of the pedigree charts found in entries throughout the main body; K. Lee and Brenda Lerner for their assistance in compiling and reviewing most of the non-disorder entries in this encyclopedia; and to Kyung Kalasky, Beth Kapes, Monique Laberge, PhD, and Lisa Nielsen for their extensive assistance with the final phase of manuscript preparation.
R. Curtis Rogers, MD, and William K. Scott, MD, provided invaluable assistance in the preparation of the second edition. Connie Clyde once again contributed outstanding copyediting and good humor during manuscript preparation. And Scott Polzin and Maria Basile both wrote many excellent entries under unique and difficult circumstances—the editor extends special thanks to them and great appreciation to all of the contributors. Finally, Mr. Polzin wishes to dedicate his articles in this and the previous edition to the memory of Betty Wilson, RN.