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  • Book
    Angus Clarke ; with contributions from Alex Murray and Julian Sampson.
    Summary: "This eighth edition provides indispensable and up-to-date guidance, helping readers to navigate the profusion of new information in this area and the associated psychosocial and ethical considerations and concerns. Maintaining the trusted framework of earlier editions, the update presents the latest information on the use and interpretation of genetic test results, including new genome-based investigations and their application in the genetic counselling process. This book will help both the student and the practitioner, as genetic and genomic investigations become progressively more relevant to all healthcare professionals with the mainstreaming of genetics across the full range of medical practice"--Publisher's description

    Contents:
    Part 1: General aspects of genetics and genetic counselling. Genetics and genetic counselling: an introduction
    Genetic counselling in Mendelian disorders
    Common disorders and genetic counselling
    Chromosome abnormalities
    Genetic and genomic investigations
    Dysmorphology and genetic syndromes
    Carrier testing
    Predictive genetic testing
    Prenatal diagnosis, antenatal screening and reproductive aspects of medical genetics
    Special issues in genetic counselling
    Clinical genetics services
    Treatments and trials for genetic disease
    Part 2: Genetic counselling: specific organ systems. Neuromuscular disorders
    Central nervous system: paediatric and neurodevelopmental disorders
    Central nervous system: adult-onset and psychiatric disorders
    Disorders of bone and connective tissue
    Oral and craniofacial disorders
    The skin
    The eye
    Deafness
    Cardiac and cardiovascular disorders
    Respiratory disorders
    The gastrointestinal tract
    Renal and urinary tract diseases
    Endocrine and reproductive disorders
    Inborn errors of metabolism
    Disorders of blood and immune function
    Environmental hazards
    Part genetic counselling and testing for cancer
    Cancer as a genetic disorder
    Colorectal cancer syndromes
    Breast and ovarian cancer
    Rare mendelian cancer syndromes and other cancers
    Part genetic counselling in context: the broader picture
    Communication in genetic counselling
    Population aspects of genetic counselling and genetic screening
    Genetics, society and the future
    Glossary
    Appendices. Further reading and information
    Practical genetic counselling: the life story of a book.
    Digital Access TandFonline [2020]