Practical Genetic Counselling (eBook)

Peter S. Harper (Autor)

eBook Download: PDF

2013 | 3. Auflage
316 Seiten
Elsevier Science (Verlag)
978-1-4831-8366-4 (ISBN)

Infos

Practical Genetic Counselling, Third Edition presents the progress in the field of medical genetics. This book covers the broad area of congenital malformation syndromes and dysmorphology. Organized into three parts encompassing 26 chapters, this edition begins with an overview of the main steps in the process of genetic counselling. This text then examines how a Mendelian inheritance may be established by a combination of clinical diagnosis. Other chapters consider the risks in specific groups of chromosomal disorders. This book discusses as well the molecular genetic approaches, which are making an impact in the treatment of major disorders by providing pure and comparatively inexpensive gene products. The final chapter deals with how genetic counselling is contributing to reducing the general burden of genetic disease in the population. This book is a valuable resource for geneticists, neurologists, clinicians, pediatricians, and obstetricians. Readers who are interested to know about genetic disorders will also find this book useful.

Inhalt

Front Cover 1
Practical Genetic Counselling 4
Copyright Page 5
Table of Contents 10
Preface to third edition 6
Preface to second edition 7
Preface to first edition 8
Part I: General aspects of genetic counselling 12
Chapter 1. Genetic counselling: an introduction 14
The development of genetic counselling 14
Constructing a family tree 15
Diagnostic information 18
Risks and odds 20
The estimation of risks 21
'Directive' genetic counselling 24
Genetic counselling 'by proxy' 25
The back-up to genetic counselling 25
References 27
Further reading 27
Chapter 2. Genetic counselling in mendelian disorders 29
Autosomal dominant inheritance 32
Homozygosity in autosomal dominant disease 36
Autosomal recessive inheritance 37
Consanguinity 40
Other problems with autosomal recessive disease 41
Marriages between two affected individuals 42
X-linked disease 43
The recognition of X-linkage 45
The risk of being a carrier for an X-linked disorder 48
The isolated case of an X-linked disorder 50
References 52
Chapter 3. Genetic counselling in non-mendelian disorders 53
Empiric risk data 53
The basis of 'multifactorial' inheritance 54
General risks in non-mendelian disorders 56
The identification of specific genetic factors in common diseases 58
References 59
Further reading 59
Chapter 4. Chromosomal abnormalities 60
Chromosomal terminology 60
Frequency of chromosomal abnormalities in the population 63
The trisomies 64
References 73
Further reading 73
Chapter 5. The molecular approach to genetic disorders 74
The main steps in DNA analysis 74
Clinical applications 78
Carrier detection 81
DNA techniques and therapy for genetic disorders 82
References 83
Further reading 83
Chapter 6. Dysmorphology and genetic syndromes 84
Definitions 84
The diagnostic approach to the dysmorphic child 85
Syndrome diagnosis and clinical management 86
The aetiological basis of malformation syndromes 86
Genetic recurrence risks in malformation syndromes 88
Computerized databases 89
Further reading 90
Chapter 7. Carrier detection 91
What is a carrier? 91
Obligatory and possible carriers 92
Carrier detection in autosomal recessive disease 93
Autosomal dominant inheritance 96
X-linked disorders 98
Methods of carrier detection 99
References 102
Chapter 8. Prenatal diagnosis 104
The criteria and indications for prenatal diagnosis 104
Amniocentesis 106
Chorion biopsy 109
Chromosomal disorders 109
Neural tube defects 112
X-linked disorders 114
Inborn errors of metabolism (see also Chapter 22) 114
Prenatal prediction by genetic linkage 117
Ultrasound in prenatal diagnosis 118
Fetoscopy 119
Twins and prenatal diagnosis 120
Maternal aspects of genetic counselling in pregnancy 120
References 121
Further reading 122
Chapter 9. Special problems in genetic counselling 123
Consanguinity 123
Multiple consanguinity 129
Inbred populations 130
Paternity and non-paternity 131
Twins 133
Legal problems in medical genetics 134
References 135
Further reading 135
Chapter 10. The genetic counselling clinic 136
General aspects 136
The genetic counselling service 138
Non-medical staff and genetic counselling 139
Counselling after stillbirth and termination of pregnancy 141
The back-up to genetic counselling 141
Genetic registers 145
Reference 147
Further reading 147
Part II: Specific organ systems 148
Chapter 11. Neuromuscular disease 150
Muscular dystrophies 150
Becker (late onset X-linked) dystrophy 153
Other progressive muscle dystrophies (see Table 11.1) 154
Congenital myopathies (Table 11.2) 154
Metabolic myopathies 155
Myotonic dystrophy 155
Other myotonic syndromes (Table 11.5) 156
Hyperpyrexic myopathy (malignant hyperpyrexia) 157
Myasthenia gravis 157
Spinal muscular atrophies 157
Motor neurone disease 158
Möbius' syndrome 158
Peroneal muscular atrophy (Charcot–Marie–Tooth disease, hereditary motor-sensory neuropathy) 158
Other hereditary neuropathies 159
References 159
Further reading 159
Chapter 12. Central nervous system and psychiatric disorders 160
Huntington's disease 160
Multiple sclerosis 164
Syringomyelia 164
Parkinson's disease 164
Other involuntary movement disorders 165
Narcolepsy 165
The hereditary ataxias 166
Hereditary spastic paraplegia 166
Senile and presenile dementias 166
Migraine 167
Neurofibromatosis 167
Von Hippel–Lindau syndrome 168
Tuberous sclerosis 168
Epilepsy 169
Cerebral aneurysms 170
Dyslexia 170
Cerebral palsy 170
Neural tube defects 171
Hydrocephalus 172
Encephalocele 173
Microcephaly 173
Holoprosencephaly 173
Agenesis of corpus callosum 173
Cerebral gigantism (Sotos' syndrome) 173
Mental retardation 174
Normal intelligence 179
Schizophrenia 179
Affective psychoses 180
Behavioural disorders 181
References 181
Further reading 183
Chapter 13. Disorders of bone and connective tissue 184
Primary bone dysplasias 184
Limb defects 188
Connective tissue disorders 189
Arthritis and arthropathies 192
Various skeletal syndromes 195
References 196
Further reading 197
Chapter 14. Oral and craniofacial disorders 198
The teeth 198
Cleft lip and palate 199
Craniofacial syndromes 201
References 203
Further reading 203
Chapter 15. The skin 204
Skin colour 204
Psoriasis 206
Atopic eczema 206
The ichthyoses {Table 15.2) 207
Palmoplanar hyperkeratosis (tylosis) 207
Epidermolysis bullosa 208
Ectodermal dysplasias 208
Naevi 208
Albinism 209
Vitiligo 209
Piebaldism 209
Baldness 209
Acanthosis nigricans 210
Skin tumours 210
References 211
Further reading 211
Chapter 16. The eye 212
Choroidoretinal degenerations 212
Nystagmus 214
Colour vision 214
Leber's optic atrophy (not to be confused with Leber's congenital amaurosis) 215
Corneal dystrophies 215
Retinal detachment 215
Retinoblastoma 215
Nome's disease (pseudoglioma) 216
Cataract 217
Lens dislocation 217
Glaucoma 217
Refractive errors 218
Cyclops 218
Microphthalmos and anophthalmos 218
Coloboma and aniridia 219
Heterochromia of the iris 219
Eye colour 219
Strabismus 219
Hereditary ptosis 220
References 220
Further reading 220
Chapter 17. Deafness 221
Severe congenital sensorineural deafness (deaf-mutism) 221
Partial nerve deafness 223
Deafness as part of syndromes 224
The external ear 226
Menière's disease 226
Further reading 227
Chapter 18. Cardiovascular diseases 228
Congenital heart disease 228
Cardiomyopathies 233
Congenital conduction defects 233
Coronary heart disease 233
Hypertension 235
Lymphatic disorders 235
Rheumatic fever 236
Pulmonary disease 236
References 237
Further reading 237
Chapter 19. The gastrointestinal tract 238
Oesophageal atresia 238
Oesophageal cancer 238
Diaphragmatic hernia 239
Infantile pyloric stenosis 239
Omphalocele and gastroschisis 239
Bowel atresias and malrotations 240
Peptic ulcer 240
Gastric cancer 240
Atrophic gastritis and pernicious anaemia 241
Coeliac disease 241
Gastrointestinal enzyme defects 241
Intussusception 241
Inflammatory bowel disease 241
Intestinal polyposis 242
Colonic cancer 242
Hirschsprung's disease 242
Imperforate anus 243
Hereditary pancreatitis 243
Cystic fibrosis 243
Metabolic liver disease 244
Hyperbilirubinaemias 244
Biliary atresia 245
Polycystic disease of the liver and congenital hepatic fibrosis 245
Adult chronic liver disease 245
References 245
Further reading 246
Chapter 20. Renal disease 247
Polycystic kidney disease 247
Medullary cystic disease (juvenile nephronophthisis microcystic disease)
Cystic dysplasia (multicystic kidney disease) 248
Hereditary nephropathies 249
Urinary tract malformations 249
Vesicoureteric reflux 250
Renal stones 250
Renal transport disorders 251
Renal tumours 251
References 251
Further reading 252
Chapter 21. Endocrine disorders 253
Diabetes mellitus 253
Endocrine deficiency disorders 255
Congenital hypothyroidism 256
Autoimmune thyroid disease 256
Multiple endocrine neoplasia 256
Congenital adrenal hyperplasia (adrenogenital syndrome) 257
Hypogonadism (Table 21.3) 257
Infertility 258
Genetic counselling and recurrent abortions 258
References 259
Further reading 260
Chapter 22. Inborn errors of metabolism 261
Phenylketonuria 263
Histidinaemia 263
Cystinuria 263
Galactosaemia 263
Sphingolipidoses 264
Glycogen storage diseases 264
Hyperlipidaemias (see also Chapter 18) 264
The porphyrias 265
Cholinesterase deficiency 265
Fatty acid metabolic defects and sudden infant death 265
Further reading 266
Chapter 23. Blood 267
Disorders of haemoglobin structure and synthesis 267
Hereditary spherocytosis 268
Hereditary elliptocytosis 268
Glucose-6-phosphate dehydrogenase deficiency 268
Other red cell enzyme defects 268
Pernicious anaemia 269
Rhesus incompatibility 269
Hydrops fetalis 269
Other blood group systems 269
White blood cells and platelets 269
Immune deficiency disease 270
Haemophilia 271
Other coagulation disorders 272
References 272
Further reading 273
Chapter 24. Genetic risks in cancer 274
Major cancer-determining loci 274
Tumours following mendelian inheritance 276
'Cancer families' 276
Genetic syndromes predisposing to malignancy 276
Embryonal and childhood cancer 277
Leukaemias 278
Lymphomas 279
Histiocytosis 279
Common cancers of later life 280
References 280
Further reading 281
Chapter 25. Environmental hazards 282
Congenital infections 282
Drugs and malformations 284
Genetic effects of radiation 287
References 288
Further reading 289
Part III: Conclusion 290
Chapter 26. Genetic counselling and society 292
Whom does genetic counselling reach? 293
The preconception clinic 293
What proportion of genetic disease is potentially preventable? 294
Will genetic counselling increase the load of deleterious genes? 296
Irradiation and the population 296
Marriage between affected individuals 297
Inbreeding and outbreeding 297
Common diseases and traits 298
References 299
Appendix: Useful information in connection with genetic counselling 300
Adoption 300
Regional genetic centres 300
Lay societies involved with inherited diseases 301
Prenatal diagnosis of metabolic disease (p. 104) 304
Index 306

Produkt-Details

• Erscheint lt. Verlag: 22.10.2013
• Sprache: englisch
• Themenwelt: Sachbuch/Ratgeber ► Gesundheit / Leben / Psychologie ► Krankheiten / Heilverfahren
• Themenwelt: Medizin / Pharmazie ► Medizinische Fachgebiete ► Innere Medizin
• Themenwelt: Naturwissenschaften ► Biologie
• Themenwelt: Technik
• ISBN-10: 1-4831-8366-1 / 1483183661
• ISBN-13: 978-1-4831-8366-4 / 9781483183664