The Practical Guide to the Genetic Family History
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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 cancerFamily history, adoption, and their challengesThe connection between the pedigree and assisted reproductive technologiesMaking referrals for genetic servicesNeurological and neuromuscular conditionsTables covering hearing loss, mental retardation, dementia, and seizuresFive case studies of genetics in practiceAn 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. Human Genetics this is a unique guide...an extremely practical handbook that should have a wide application.
Illustrations and TablesForewordPreface1The Language of the Pedigree12Practical Inheritance133Getting to the Roots: Recording the Family Tree384Directed Medical-Genetic Family History Queries: Separating the Trees from the Forest684.1The Approach684.2Physical Birth Anomalies and Variants714.3Deafness/Hearing Loss834.4Vision Impairment884.5Mental Retardation924.6Autism994.7Neurological and Neuromuscular Disorders1004.8Seizures1024.9Dementia1044.10Mental Illness1064.11Disorders Involving the Cardiac System1074.12Chronic Respiratory Disease1114.13Renal Disorders1124.14Skeletal Anomalies and Disorders of Short Stature1154.15Diabetes1194.16Reproductive Failure, Infertility, and Multiple Miscarriages1204.17Sudden Infant Death Syndrome1235Using a Pedigree to Recognize Individuals with an Increased Susceptibility to Cancer1296Medical Verification of a Family History1457The Challenge of Family History and Adoption1548The Pedigree and Assisted Reproductive Technologies1609Making a Referral for Genetic Services: Where to Turn and What to Expect16610Pedigree Predicaments173Glossary181App. A.1Handy Reference Tables of Pedigree Nomenclature191App. A.2Sample Clinical Pedigree Form194App. A.3Sample Genetic Screening Form for Familial Cancer Risk Assessment196App. A.4Sample Adoption Medical-Family History Form199App. A.5The Genetics Library212App. A.6Genetics in Practice: Five Case Studies225Index239
