Description
Book SynopsisTable of ContentsContributors
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
