Practical genetic counselling

著者

書誌事項

Practical genetic counselling

Peter S. Harper

Butterworth-Heinemann, 1998

5th ed

  • pbk.

大学図書館所蔵 件 / 全14件

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注記

Includes bibliographical references and index

内容説明・目次

内容説明

A concise account of the theory and practice of genetic counselling for clinicians in both hospital and family practice. The counselling of those at risk from inherited disorders forms an integral part of medicine, and huge advances are continually being made in this area of practice. The 5th edition of 'Practical Genetic Counselling' provides clinicians with an invaluable, up-to-date guide through the deluge of new information. New areas of coverage include: new genetic developments and society - new regulatory bodies, effects of insurance; genetic testing for late onset diseases; genetic advances in common disorders - use of and dangers of susceptibility testing; new chromosome and molecular techniques; the human genome project and implications for genetic counselling; preimplantation genetic diagnosis; population screening for genetic disorders; developmental genes and birth defects. New areas featured in the second section of the book include: trinucleotide repeat disorders and inherited neurological diseases; molecular basis of bone and connective tissue disorders; new genes isolated for inherited deafness and blindness; genetics and cancer (completely rewritten to include new developments in familial breast and blood cancer); and congenital heart disease and chromosome defects.

目次

General Aspects of Genetic Counselling: Genetic counselling: an introduction Genetic counselling in mendelian disorders Genetic counselling in non-mendelian disorders Chromosomal abnormalities Dysmorphology and genetic syndromes Carrier detection Prenatal diagnosis Special problems in genetic counselling The genetic counselling clinic Specific Organ Systems: Neuromuscular disease Central nervous system Disorders of mental function Disorders of bone and connective tissue Oral and craniofacial disorders The skin The eye Deafness Cardiovascular disease The gastrointestinal tract Renal disease Endocrine disorders Inborn errors of metabolism Blood Genetic risks in cancer Environmental hazards The Wider Picture: Population aspects of genetic counselling Genetic counselling and society.

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