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.

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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
Direitos de autor

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Palavras e frases frequentes

Passagens conhecidas

Página 35 - Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, 1995: 739-748.
Página 36 - In Scriver CR, Beaudet AL, Sly WS, Valle D (eds), The Metabolic and Molecular Bases of Inherited Disease.
Página 141 - J, et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2.
Página 176 - Patients have a right to privacy that should not be infringed without informed consent. Identifying information should not be published in written descriptions, photographs, and pedigrees unless the information is essential for scientific purposes and the patient (or parent or guardian) gives written informed consent for publication. Informed consent for this purpose requires that the patient be shown the manuscript to be published. Identifying details should be omitted if they are not essential,...
Página 148 - This consent is subject to revocation at any time except to the extent that the program which is to make the disclosure has already taken action in reliance on it.
Página 91 - Mental retardation is not something you have, like blue eyes, or a bad heart. Nor is it something you are, like short, or thin.
Página 123 - Rimoin' s principles and practice of medical genetics, 3rd ed. New York : Churchill Livingstone, 1 996.
Página 65 - The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size.

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Acerca do autor (2004)

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.

Informação bibliográfica