Dec 21, 2009
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 nearly 400 entries provides in-depth coverage of disorders ranging from exceedingly rare to 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 still providing thorough coverage of each disorder medical professionals will find beneficial as well. 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 rubric used was:
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 Gale Group editors.
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.
The Gale Encyclopedia of Genetic Disorders has been designed with ready reference in mind.
The Gale Encyclopedia of Genetic Disorders contains over 200 full color illustrations, including photos and pedigree charts. A complete symbol guide for the pedigree charts can be found in the appendix.
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 Connie Clyde, Kyung Kalasky, Beth Kapes, Monique Laberge, PhD, and Lisa Nielsen for their extensive assistance with the final phase of manuscript preparation.
All photographs and illustrations throughout the Gale Encyclopedia of Genetic Disorders have been reproduced by permission from the source noted in each caption. Special acknowledgement is given to the photographers of photographs found in the following entries: Achondroplasia © David Frazier/Photo Researchers, Inc. Reproduced by permission. Acromegaly © NMSB/Custom Medical Stock Photo. Reproduced by permission. Albinism © Norman Lightfoot. National Audubon Society Collection/Photo Researchers, Inc. Reproduced by permission. Alzheimer disease © Alfred Pasieka. SPL/Photo Researchers, Inc. Reproduced by permission. Amniocentesis © Will and Demi McIntyre. National Audubon Society Collection/Photo Researchers, Inc. Reproduced by permission. Ankylosing spondylitis © P. Marazzi. SPL/Photo Researchers, Inc. Reproduced by permission. Apert syndrome © Ansary/Custom Medical Stock Photo. Reproduced by permission. Asthma © 1993 B. S. I. P./Custom Medical Stock Photo. Reproduced by permission. Attention deficit hyperactivity disorder © Robert J. Huffman. Field Mark Publications. Reproduced by permission. Bicuspid aortic valve © Roseman/Custom Medical Stock Photo. Reproduced by permission. Cancer © Nina Lampen. Science Source/Photo Researchers, Inc. Reproduced by permission. Cerebral palsy © Will McIntyre. W. McIntyre/Photo Researchers, Inc. Reproduced by permission. Chromosomes © CNRI/Science Photo Library. Photo Researchers, Inc. Reproduced by permission. Cleft lip and palate © NMSB/Custom Medical Stock Photo. Reproduced by permission. Clubfoot © Science Source, National Audubon Society Collection/Photo Researchers, Inc. Reproduced with permission. Coloboma © P. Marazzi. SPL/Photo Researchers, Inc. Reproduced by permission. Color blindness © Lester V. Bergman/Corbis. Reproduced by permission. Congenital heart defects © Simon Fraser/Science Photo Library/Photo Researchers, Inc. Reproduced by permission. Conjoined twins © Siebert/Custom Medical Stock Photo. Reproduced by permission. Corneal dystrophy © Gilman/Custom Medical Stock Photo. Reproduced by permission. Cystic fibrosis © 1992 Michael English, M. D. Custom Medical Stock Photo. Reproduced by permission. Depression © NIH/Science Source, National Audubon Society Collection/Photo Researchers, Inc. Reproduced with permission. Diabetes mellitus © 1992 Science Photo Library/Custom Medical Stock Photo. Reproduced by permission. Down syndrome © A. Sieveing. A. Sieveing/Petit Format/Photo Researchers, Inc. Reproduced by permission. Dysplasia © Biophoto/Photo Researchers, Inc. Reproduced by permission. Ehler-Danlos syndrome © NMSB/Custom Medical Stock Photo. Reproduced by permission. Encephalocele © Siebert/Custom Medical Stock Photo. Reproduced by permission. Epidermolysis bullosa © M. English/Custom Medical Stock Photo. Reproduced by permission. Fragile X syndrome © Siebert/Custom Medical Stock Photo. Reproduced by permission. Gene mapping © Sinclair Stammers. Photo Researchers, Inc. Reproduced by permission. Gene mutation © Joseph R. Siebert. Custom Medical Stock Photo. Reproduced by permission. Gene pool © Gerald Davis/Phototake NYC. Reproduced with permission. Gene therapy © 1995, photograph by James King. /SPL/Custom Medical Stock Photo. Reproduced by permission. Gene therapy © Philippe Plailly. National Audubon Society Collection/Photo Researchers, Inc. Reproduced by permission. Genetic disorders © NMSB/Custom Medical Stock Photo. Reproduced by permission. Genetic testing © Phillippe Plailly. Science Photo Library, National Audubon Society Collection/Photo Researchers, Inc. Reproduced by permission. Glaucoma © 1995 Science Photo Library, Western Ophthalmic Hospital/Science Photo Library. Custom Medical Stock Photo. Reproduced by permission. Goltz syndrome © L I, Inc./Custom Medical Stock Photo. Reproduced by permission. Hair loss syndrome © NMSB/Custom Medical Stock Photo. Reproduced by permission. Hemophilia © Bates/Custom Medical Stock Photo. Reproduced by permission. Hydrocephalus © Lester V. Bergman/Corbis. Reproduced by permission. Ichthyosis © NMSB/Custom Medical Stock Photo. Reproduced by permission. Inheritance © Biophoto Associates/Photo Researchers, Inc. Reproduced by permission. Joubert syndrome © Gary Parker. SPL/Photo Researchers, Inc. Reproduced by permission. Karyotype © Science Photo Library/Custom Medical Stock Photo. Reproduced by permission. Liver cancer © CNRI/Photo Researchers, Inc. Reproduced by permission. McKusick-Kaufman syndrome © Thomas B. Hollyman, Science Source/ Photo Researchers. Reproduced by permission. Meckel diverticulum © 1991, photograph. NMSB/Custom Medical Stock Photo. Reproduced by permission. Narcolepsy © Bannor/Custom Medical Stock Photo. Reproduced by permission. Olser-Rendu-Weber syndrome © P. Marazzi. SPL/Photo Researchers, Inc. Reproduced by permission. Oral-facial-digital syndrome © Photography by Keith. Custom Medical Stock Photo. Reproduced by permission. Osteogenesis imperfecta © Joseph Siebert, Ph. D. Custom Medical Stock Photo. Reproduced by permission. Osteoperosis © 1993 Patrick McDonnel. Custom Medical Stock Photo. Reproduced by permission. Otopalatodigital syndrome © Biophoto Associates/Science Source/Photo Researchers, Inc. Reproduced by permission. Pancreatic cancer © John Bavosi/Science Photo Library. Custom Medical Stock Photo. Reproduced by permission. Polycystic kidney disease © A. Glauberman. Photo Researchers, Inc. Reproduced by permission. Porphyrias © Ansary/Custom Medical Stock Photo. Reproduced by permission. Potter syndrome © Siebert/Custom Medical Stock Photo. Reproduced by permission. Progeria © NMSB/Custom Medical Stock Photo. Reproduced by permission. Prostate cancer © Dr. P. Marazzi. Photo Researchers, Inc. Reproduced by permission. Prune belly syndrome © Ansary/Custom Medical Stock Photo. Reproduced by permission. Raynaud disease © 1997, photograph. P. Stocklein/Custom Medical Stock Photo. Reproduced by permission. Retinitis pigmentosa © Science Photo Library/Custom Medical Stock Photo. Reproduced by permission. Scleroderma © Dr. P. Marazzi. Photo Researchers, Inc. Reproduced by permission. Scoliosis © NMSB/Custom Medical Stock Photo. Reproduced by permission. Sickle cell anemia © Dr. Gopal Murti. National Audubon Society Collection/Photo Researchers, Inc. Reproduced by permission. Sickle cell anemia © 1995 Science Photo Library. Custom Medical Stock Photo. Reproduced by permission. Spina bifida © Biophoto Associates, National Audubon Society Collection/Photo Researchers, Inc. Reproduced by permission. Stein-Leventhal syndrome © P. Marazzi. SPL/Photo Researchers, Inc. Reproduced by permission. Stomach cancer © Science Photo Library/Custom Medical Stock Photo. Reproduced by permission. Sturge-Weber syndrome © Mehau Kulyk. SPL/Photo Researchers, Inc. Reproduced by permission. Sutherland-Haan syndrome © Biophoto Associates/Photo Researchers, Inc. Reproduced by permission. Tay-Sachs disease © 1992 IMS Creative/Graph/Photo. Custom Medical Stock Photo. Reproduced by permission. Thalassemia © John Bavosi. SPL/Photo Researchers, Inc. Reproduced by permission. Triose phosphate isomerase © photograph. NMSB/Custom Medical Stock Photo. Reproduced by permission. Trisomy 13 © 1992 Ralph C. Eagle, M.D./Photo Researchers, Inc. Reproduced by permission. Trisomy 18 © Department of Clinical Cytogenetics, Addenbrookes Hospital/Science Photo Library/Photo Researchers, Inc. Reproduced by permission. Tuberous sclerosis © LI Inc./Custom Medical Stock Photo. Reproduced by permission. Turner syndrome © NMSB/Custom Medical Stock Photo. Reproduced by permission. Usher syndrome © L. Steinmark. Custom Medical Stock Photo. Reproduced by permission. Werner syndrome © NMSB/Custom Medical Stock Photo. Reproduced by permission. Wilson disease © Science Photo Library/Photo Researchers, Inc. Reproduced by permission. Zygote © Dr. Yorgos Nikas/Science Photo Library/Photo Researchers, Inc. Reproduced by permission.
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