Clinical Genetics and Genomics at a Glance > Genetics

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.

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