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Genetic Counselling, Second Edition covers genetic counseling, which is mainly concerned with advising people about the risk that a member of a family will suffer from a congenital or hereditary disorder. This edition updates topics such as the advent of differential staining of chromosomes and extensive use of amniocentesis and other techniques in pre-natal diagnosis. When considering defects and disorders, an attempt is made to indicate where risk estimates should present no problems to the practicing physician, and where, by reason of genetical, statistical, or diagnostic complexities, it may be advisable to seek some specialist opinion. This book concentrates on such estimations of risk, emphasizing that pre-requisites for adequate estimations of risks are as accurate a diagnosis as possible. The mechanisms of inheritance of the trait or availability of data on which to base empirical estimates are also deliberated. This publication is intended as a guide to clinicians and as an aide-memoire to medical geneticists.
Preface to First EditionPreface to Second Edition1. Introduction2. Elementary Genetics3. Principles of Derivation of Risk Estimates4. Risk Estimates in Respect of Autosomal Dominant Gene Traits5. Counselling X-Linked Recessive Gene Traits6. Risk Estimates-Autosomal Recessive Gene Traits7. Consanguinity8. Disorders due to Chromosomal Anomalies9. Defects and Disorders of the Central Nervous System10. Defects and Disorders of the Eyes11. Mental Defect and Mental Illness12. Deafness13. Disorders of Muscles14. Disorders Predominantly Affecting the Skeleton15. Defects and Disorders of the Alimentary Tract16. Defects and Disorders of the Urogenital System17. Defects and Disorders of the Cardiovascular System18. Hereditary Disorders of the Skin and Integument19. Metabolic Disorders20. Hereditary Disorders of the Blood21. Neoplasms22. Risks to Outcome of Pregnancy and Effects of Mutagenic and Teratogenic Agents23. Some Syndromes and some Miscellaneous Conditions24. Our Patients and Their ProblemsAppendix 1 Autosomal Dominant Traits not Invariably PenetrantAppendix 2 Estimation of PenetranceAppendix 3 Genetic Risks X-Linked Traits-Further ProblemsAppendix 4 Calculation of Coefficients of InbreedingAppendix 5 GlossaryIndex
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