Previous edition: 2011.

Includes bibliographical references and index.

What can we learn from a family history? -- How can a patient's chromosomes be studied? -- How do genes work? -- How can a patient's DNA be studied? -- How can we check a patient's DNA for gene mutations? -- What do mutations do? -- What is epigenetics? -- How do our genes affect our metabolism, drug responses and immune system? -- How do researchers identify genes for mendelian diseases? -- Why are some conditions common and others rare? -- When is screening useful? -- Is cancer genetic? -- Should we be testing for genetic susceptibility to common diseases? -- What clinical services are available for families with genetic disorders? -- Guidance for self-assessment questions.

"In the few years since the previous edition technical progress, especially the widespread use of whole-genome technologies, has brought many advances in the understanding, diagnosis and treatment of genetic disease. As a result, most chapters have been substantially rewritten and updated to reflect this. The unique structure and format remains the same, but significant new material has been added to cover: the widespread use of next-generation sequencing as a routine diagnostic tool; the checking of a patient's whole exome for the cause of their problem; noninvasive prenatal diagnosis by next-generation sequencing of free fetal DNA in the maternal circulation; a new integrated treatment of epigenetics; mosaicism, 'RASopathies' and disorders of the spliceosome are described in new Disease boxes; and dysmorphology in more detail. New Clinical Genetics continues to offer the most innovative case-based approach to modern genetics. It is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, and clinical and nurse geneticists."--Publisher's website.