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.

Contributors

Foreword

               Preface

Part 1    Introduction

1             What is Clinical Genetics and Genomic medicine?

2             Inheritance

3             Cytogenetic & Molecular genetic techniques

4             How to read a genetic test report

5             Genetic Counselling

Part 2    Cardiology

6             Structure and Congenital Heart Disease

7             Ischamic Heart Disease

8             Cardiomyopthies

9             Arrhythmias and Sudden Cardiac Death

Part 3    Dermatology

10           Tuberous Sclerosis

11           Gorlin syndrome

12           Dariers Disease

13           Lamellar Icthyosis

14           Mal De Meleda

15           Cutaneous Porphyria

16           Epidermolysis Bullosa

17           Cowden syndrome and Cowden-like syndrome

18           Muir-Torre Syndrome

18           X-linked Icthyosis

20           Birt-Hogg-Dube

Part 4    Endocrinology

21           Disorders of sexual development and differentiation

22           Congenital adrenal hyperplasia

23           Androgen Insensitivity Syndrome

24           Klinefelters syndrome

25           Turners Syndrome

26           Diabetes Mellitus

27           Diabetes Insipidus

28           Fabry-Anderson

Part 5    Metabolic

29           Introduction to the genetics of metabolic disorders

30           Overview of disorders of amino acid metabolism

31           Overview of disorders of carbohydrate metabolism

32           Overview of disorders of lipid metabolism

33           Overview of peroxisomal disorders

34           Disorders of purine and pyrimidine metabolism

Part 6    Gastroenterology

35           IBD

36           Wilsons

37           Heamochromatosis

38           Coeliac Disease

39           Pancreatic cancer

Part 7    Haematology

40           Malignant Haematology

41           Non malignanat Haematology

Part 8    Immunology

42           Severe combined immunodeficiency

43           DNA repair defects

44           Congenital abnormalities affecting the development of the thymus

45           Common variable immunodeficiency

46           X-linked (and autosomal recessive) agammaglobulinaemia

47           Wiskott-Aldrich syndrome

48           Hyperimmunoglobulin M syndromes

49           Hyperimmunoglobulin E syndrome

50           Chronic mucocutaneous candidiasis

51           Genetic disorders associated with immune dysregulation and/or autoimmunity

52           Genetic disorders associated with familial haemophagocytic lymphohistiocytosis

53           Mendelian susceptibility to mycobacterial disease

54           Chronic granulomatous disease

55           Defects in leukocyte migration

56           Defects of Toll like receptors and their signalling pathways

57           Complement deficiencies

58           Autoinflammatory diseases and periodic fever syndromes

Part 9    Neurology

59           SMA

60           MND/ALS

61           Fragile X

62           HD

63           Dementia

64           Parkinsons

65           Myotonic dystrophy

Part 10  Paediatrics and Obstetrics

66           Fetal anomaly screening

67           Prenatal diagnostic testing and Preimplantation Genetic Diagnosis

68           Edwards ` Syndrome

69           Patau syndrome

70           Williams syndrome

71           Di George syndrome

Part 11  Oncology

72           Introduction to Cancer

73           Neurofibromatosis

74           Urological Cancers

75           Peutz-Jegher Syndrome

76           Von Hippel-Lindau

77           Inherited Bowel (Lower GI) Cancers

78           Inherited upper GI cancers

79           Inherited Breast Cancer

80           Retinoblastoma

81           Multiple Endocrine Neoplasia

Part 12  Opthalmology

82           Congential and Childhood Cataracts

83           Colour blindness and Achromatopsia

84           Retinitis Pigmentosa

85           Primary Congential Glaucoma

86           Bardet-Biedl Syndrome

Part 13  Renal

87           PCKD

88           Nephronophthisis

89           Medullary cystic kidney disease

90           Tuberous sclerosis

91           von Hippel-Lindau

92           Alport syndrome

93           Cystinosis

94           Cystinuria

Part 14  MSK

95           Marfans

96           EDS

97           Congenital Limb Deficiencies

98           DMD

99           Charcot–Marie–Tooth (CMT)

100        Ankylosing Spondylitis

101        Skeletal dysplasias

Glossary

Index

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