Clinical Genetics and Genomics at a Glance

ISBN-13: 9781119240952 / Angielski / Miękka / 2023 / 180 str.

Neeta Lakhani; Kunal Kulkarni; Julian Barwell

Spis treści

ContributorsForewordPrefacePart 1 Introduction1 What is Clinical Genetics and Genomic medicine?2 Inheritance3 Cytogenetic & Molecular genetic techniques4 How to read a genetic test report5 Genetic CounsellingPart 2 Cardiology6 Structure and Congenital Heart Disease7 Ischamic Heart Disease8 Cardiomyopthies9 Arrhythmias and Sudden Cardiac DeathPart 3 Dermatology10 Tuberous Sclerosis11 Gorlin syndrome12 Dariers Disease13 Lamellar Icthyosis14 Mal De Meleda15 Cutaneous Porphyria16 Epidermolysis Bullosa17 Cowden syndrome and Cowden-like syndrome18 Muir-Torre Syndrome18 X-linked Icthyosis20 Birt-Hogg-DubePart 4 Endocrinology21 Disorders of sexual development and differentiation22 Congenital adrenal hyperplasia23 Androgen Insensitivity Syndrome24 Klinefelters syndrome25 Turners Syndrome26 Diabetes Mellitus27 Diabetes Insipidus28 Fabry-AndersonPart 5 Metabolic29 Introduction to the genetics of metabolic disorders30 Overview of disorders of amino acid metabolism31 Overview of disorders of carbohydrate metabolism32 Overview of disorders of lipid metabolism33 Overview of peroxisomal disorders34 Disorders of purine and pyrimidine metabolismPart 6 Gastroenterology35 IBD36 Wilsons37 Heamochromatosis38 Coeliac Disease39 Pancreatic cancerPart 7 Haematology40 Malignant Haematology41 Non malignanat HaematologyPart 8 Immunology42 Severe combined immunodeficiency43 DNA repair defects44 Congenital abnormalities affecting the development of the thymus45 Common variable immunodeficiency46 X-linked (and autosomal recessive) agammaglobulinaemia47 Wiskott-Aldrich syndrome48 Hyperimmunoglobulin M syndromes49 Hyperimmunoglobulin E syndrome50 Chronic mucocutaneous candidiasis51 Genetic disorders associated with immune dysregulation and/or autoimmunity52 Genetic disorders associated with familial haemophagocytic lymphohistiocytosis53 Mendelian susceptibility to mycobacterial disease54 Chronic granulomatous disease55 Defects in leukocyte migration56 Defects of Toll like receptors and their signalling pathways57 Complement deficiencies58 Autoinflammatory diseases and periodic fever syndromesPart 9 Neurology59 SMA60 MND/ALS61 Fragile X62 HD63 Dementia64 Parkinsons65 Myotonic dystrophyPart 10 Paediatrics and Obstetrics66 Fetal anomaly screening67 Prenatal diagnostic testing and Preimplantation Genetic Diagnosis68 Edwards ' Syndrome69 Patau syndrome70 Williams syndrome71 Di George syndromePart 11 Oncology72 Introduction to Cancer73 Neurofibromatosis74 Urological Cancers75 Peutz-Jegher Syndrome76 Von Hippel-Lindau77 Inherited Bowel (Lower GI) Cancers78 Inherited upper GI cancers79 Inherited Breast Cancer80 Retinoblastoma81 Multiple Endocrine NeoplasiaPart 12 Opthalmology82 Congential and Childhood Cataracts83 Colour blindness and Achromatopsia84 Retinitis Pigmentosa85 Primary Congential Glaucoma86 Bardet-Biedl SyndromePart 13 Renal87 PCKD88 Nephronophthisis89 Medullary cystic kidney disease90 Tuberous sclerosis91 von Hippel-Lindau92 Alport syndrome93 Cystinosis94 CystinuriaPart 14 MSK95 Marfans96 EDS97 Congenital Limb Deficiencies98 DMD99 Charcot-Marie-Tooth (CMT)100 Ankylosing Spondylitis101 Skeletal dysplasiasGlossaryIndex

O autorze

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.