The Practical Guide to the Genetic Family History
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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3 Getting to the Roots Recording the Family Tree
4 Directed MedicalGenetic Family History Queries Separating the Trees from the Forest
5 Using a Pedigree to Recognize Individuals with an Increased Susceptibility to Cancer
6 Medical Verification of a Family History
7 The Challenge of Family History and Adoption
8 The Pedigree and Assisted Reproductive Technologies
9 Making a Referral for Genetic Services Where to Turn and What to Expect
10 Pedigree Predicaments
Outras edições - Ver tudo
abnormal adoption age at onset alcohol associated ataxia autosomal dominant autosomal recessive birth anomalies birth defects breast cancer cancer syndrome carcinoma carrier cataracts cell child chromosome anomaly cleft palate clinical clinician common Connor JM cousins cystic fibrosis deafness dementia diabetes diagnosis donor dysmorphic features dysplasia dystrophy ethnic etiology example family history family members father female fetal genetic counseling genetic disorders genetic testing hearing loss hereditary Hum Genet Human Genetics Huntington disease individual’s infertility inheritance pattern male maternal Medical Genetics medical records Medical-Family History Questions mental retardation mitochondrial molecular mother multiple myotonic dystrophy neurological Noonan syndrome note age Oxford parents patient pedigree pedigree symbols person pregnancy problems Pyeritz RE eds relatives renal Rimoin DL Rimoin’s Principles risk screening seizures short stature siblings sister sperm Table teratogenic tion tuberous sclerosis tumor University Press unusual X-linked York
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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.