Clinical Genetics and Genomics at a Glance

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