The Practical Guide to the Genetic Family HistoryJohn 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 | |
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 |
239 | |
Outras edições - Ver tudo
The Practical Guide to the Genetic Family History MS Robin L. Bennett (CGC.) Visualização de excertos - 1999 |
The Practical Guide to the Genetic Family History Robin L. Bennett Pré-visualização indisponível - 2004 |
Palavras e frases frequentes
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