The Practical Guide to the Genetic Family History

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John Wiley & Sons, 07/04/2004 - 272 páginas
The Practical Guide to The Genetic Family History Robin L. Bennett Compiling the most recent genetic developments in medical specialties, The Practical Guide to the Genetic Family History is a valuable resource which outlines the proper methods for taking and recording a patient's family medical history, allowing primary care physicians to be more efficient in diagnosing conditions with potential genetic components. With genetic screening forms, an overview of directed questions, pedigree nomenclature, and outlining common approaches used, genetic counselor Robin L. Bennett provides readers with the basic foundation in human genetics necessary to recognize inherited disorders and familial disease susceptibility in patients. As the only guide which is geared for the physician in this field, The Practical Guide to the Genetic Family History includes remarks by renowned medical geneticist Arno Motulsky, as well as information on structuring an accurate pedigree and its components, including:
* Using a pedigree to identify individuals with an increased susceptibility to cancer
* Family history, adoption, and their challenges
* The connection between the pedigree and assisted reproductive technologies
* Making referrals for genetic services
* Neurological and neuromuscular conditions
* Tables covering hearing loss, mental retardation, dementia, and seizures
* Five case studies of genetics in practice
An essential reference for genetics clinics, medical geneticists, and counselors, The Practical Guide to the Genetic Family History is also an invaluable aid for both primary care and specialist physicians who need an up-to-date reference that emphasizes both the science and art of modern clinical genetics.
 

Índice

1 The Language of the Pedigree
1
2 Practical Inheritance
13
3 Getting to the Roots Recording the Family Tree
38
4 Directed MedicalGenetic Family History Queries Separating the Trees from the Forest
68
5 Using a Pedigree to Recognize Individuals with an Increased Susceptibility to Cancer
129
6 Medical Verification of a Family History
145
7 The Challenge of Family History and Adoption
154
8 The Pedigree and Assisted Reproductive Technologies
160
9 Making a Referral for Genetic Services Where to Turn and What to Expect
166
10 Pedigree Predicaments
173
Glossary
181
Appendices
191
Index
239
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Robin L. Bennett has been a genetic counselor in the genetics clinic at the University of Washington Medical Center for over 20 years. She has proven and award-winning expertise in helping patients, families, and her colleagues at all levels deal with the multitude of practical, logistical, psychological, and diagnostic issues that are a day to day part of genetic counseling.

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