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Clinical Genetics and Genomics at a Glance

ISBN: 978-1-119-24095-2

September 2023

Wiley-Blackwell

272 pages

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Description

Clinical Genetics and Genomics at a Glance

The market-leading at a Glance series is popular among healthcare students and newly qualified practitioners, for its concise and simple approach and excellent illustrations.

Each bite-sized chapter is covered in a double-page spread with clear, easy-to-follow diagrams, supported by succinct explanatory text.

Covering a wide range of topics, books in the at a Glance series are ideal as introductory texts for teaching, learning and revision, and are useful throughout university and beyond.

Everything you need to know about Clinical Genetics and Genomics … at a Glance!

Comprehensive and accessible overview of genetics in clinical practice with a unique systems-based approach

Clinical Genetics and Genomics at a Glance combines the clinical and scientific facets of a complex subject in a way that is both accessible and succinct to facilitate the diagnosis, treatment, and management of common genetic conditions.

Using the popular “at a Glance” format, this book enables the reader to gain a solid understanding of the practical applications of clinical genetics in different systems. Covering a wide range of topics, this book is perfect for an introduction on the subject texts or for revision purposes and are useful throughout medical school and beyond.

Clinical Genetics and Genomics at a Glance uses a systemic approach following all the systems in the body:

  • General topics such as inheritance, cytogenetic and molecular genetic techniques, how to read a genetic test report, and genetic counselling
  • Chapters on key conditions with a genetic basis, organised by body systems, for example:
    • Cardiology topics such as congenital heart disease, ischaemic heart disease, cardiomyopathies, arrhythmias, and sudden cardiac death
    • Dermatology topics such as tuberous sclerosis, Gorlin syndrome, Darier disease, lamellar ichthyosis, mal de meleda, cutaneous porphyria, and epidermolysis bullosa
    • Endocrinology topics such as adrenal gland conditions, androgen insensitivity syndrome, ambiguous sex syndromes, anorchism, Klinefelter syndrome, Turner syndrome, and diabetes mellitus

Clinical Genetics and Genomics at a Glance is a helpful learning aid that can be used at various stages of medical training to gain an understanding of the aspects of clinical genetics and the fundamentals behind the specialty. The text also functions as a useful on-ward reference tool for practitioners of all experience levels.

About the Author

Dr Neeta Lakhani, Specialty Registrar in Clinical Genetics, with a Paediatric background. University Hospitals of Leicester NHS Trust, Leicester, UK.

Mr Kunal Kulkarni, Consultant Trauma and Orthopaedic Surgeon (Hand & Wrist specialist). University Hospitals of Leicester NHS Trust, Leicester, UK.

Professor Julian Barwell, Consultant in Clinical Genetics and Honorary Professor in Genomic Medicine. University Hospitals of Leicester NHS Trust, Leicester, UK.

Professor Pradeep Vasudevan, Consultant in Clinical Genetics and Honorary Professor. University Hospitals of Leicester NHS Trust, Leicester, UK.

Dr Huw Dorkins, Fellow and Senior Tutor in Medicine at St Peter's College, University of Oxford, Oxford, UK. Editor-in-Chief, Journal of Medical Genetics.