Medical Genetics at a Glance / Edition 3

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Medical Genetics at a Glance covers the core scientific principles necessary for an understanding of medical genetics and its clinical applications, while also considering the social implications of genetic disorders. This third edition has been fully updated to include the latest developments in the field, covering the most common genetic anomalies, their diagnosis and management, in clear, concise and revision-friendly sections to complement any health science course. Medical Genetics at a Glance now has a completely revised structure, to make its content even more accessible. Other features include:
• Three new chapters on Gene Identification, The Biology of Cancer, and Genomic Approaches to Cancer
• A much extended treatment of Biochemical Genetics
• A completely revised chapter on The Cell Cycle, explaining principles of biochemistry and genetics which are fundamental to understanding cancer causation
• Two new chapters on Cardiac Developmental Pathology
• An extended Case Studies section Providing a broad understanding of one of the most rapidly progressing topics in medicine, Medical Genetics at a Glance is perfect for students of medicine, molecular biology, genetics and genetic counselling, and is a previous winner of a BMA Award.

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Editorial Reviews

From the Publisher
“An extended Case Studies section Providing a broad understanding of one of the most rapidly progressing topics in medicine, Medical Genetics at a Glance is perfect for students of medicine, molecular biology, genetics and genetic counselling, and is a previous winner of a BMA Award.” (Newbooks.lib, 2 September 2014)
Doody's Review Service
Reviewer: Ian Glass, MD, FRCP, FRACP, FACMG(University of Washington School of Medicine)
Description: This is an entirely new and very succinct general book summarizing genetics and its medical applications.
Purpose: It is primarily directed to medical students, whose time is limited, with the aim of providing a large volume of information in a study-friendly and exam-preparatory manner. This goal is beautifully achieved in an incredibly concise 100 pages of text and figures, based around three integrated sections describing, in turn, developmental biology, medical genetics, and clinical applications of genetics. The flow is deliberate. This book more than reaches its goals of providing a quick and efficient review of the subject because it is so invitingly concise and therefore intensely readable.
Audience: Although it might be considered redundant in a crowded marketplace for medical students, this book is extremely appealing and accessible and, indeed, other student groups may also avail themselves of it.
Features: The detail is greater than would be suggested from the page count alone. This is attained largely because the figures/illustrations in each chapter are superb. They are composed of beautiful and clear line drawings with pertinent interposed text. Each of the 48 chapters is composed of a simple but effective format — a single page with a figure facing a single page of text. This format is disarmingly engaging to the reader, encouraging progression through an otherwise dense subject area. The text is very well written and easy to read. The figures live by the axiom, "a picture saves a thousand words," integrating very well with the text. The subheadings are helpful and the choice of clinical examples is appropriate, although necessarily brief. There is a good glossary and index.
Assessment: Although the presentation style may not appeal to all, the effective, succinct nature of the book will overcome any skepticism. Overall, this is an excellent, memorable book with a refreshing means of presentation.

3 Stars from Doody
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Product Details

  • ISBN-13: 9780470656549
  • Publisher: Wiley
  • Publication date: 9/23/2013
  • Series: At a Glance Series
  • Edition description: New Edition
  • Edition number: 3
  • Pages: 232
  • Sales rank: 806,430
  • Product dimensions: 8.40 (w) x 10.90 (h) x 0.50 (d)

Meet the Author

Uses a structured approach in the molecular diagnostic techniques of modern clinical genetics.
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Table of Contents

Preface to the first edition 7

Preface to the third edition 7

Acknowledgements 8

List of abbreviations 9

Part 1 Overview

1 The place of genetics in medicine 12

Part 2 The Mendelian approach

2 Pedigree drawing 14

3 Mendel’s laws 16

4 Principles of autosomal dominant inheritance and pharmacogenetics 19

5 Autosomal dominant inheritance, clinical examples 22

6 Autosomal recessive inheritance, principles 25

7 Consanguinity and major disabling autosomal recessive conditions 28

8 Autosomal recessive inheritance, life-threatening conditions 31

9 Aspects of dominance 34

10 X-linked and Y-linked inheritance 36

11 X-linked inheritance, clinical examples 38

12 Mitochondrial inheritance 40

13 Risk assessment in Mendelian conditions 42

Part 3 Basic cell biology

14 The cell 44

15 The chromosomes 46

16 The cell cycle 48

17 Biochemistry of the cell cycle 50

18 Gametogenesis 52

Part 4 Basic molecular biology

19 DNA structure 54

20 DNA replication 56

21 The structure of genes 58

22 Production of messenger RNA 60

23 Non-coding RNA 62

24 Protein synthesis 64

Part 5 Genetic variation

25 Types of genetic alterations 66

26 Mutagenesis and DNA repair 68

27 Genomic imprinting 70

28 Dynamic mutation 73

29 Normal polymorphism 76

30 Allele frequency 79

Part 6 Organization of the human genome

31 Genetic linkage and genetic association 82

32 Physical gene mapping 84

33 Gene identifi cation 86

34 Clinical application of linkage and association 88

Part 7 Cytogenetics

35 Chromosome analysis 90

36 Autosomal aneuploidies 92

37 Sex chromosome aneuploidies 94

38 Chromosome structural abnormalities 96

39 Chromosome structural abnormalities, clinical examples 98

40 Contiguous-gene and single-gene syndromes 102

Part 8 Embryology and congenital abnormalities

41 Human embryology in outline 106

42 Body patterning 108

43 Sexual differentiation 110

44 Abnormalities of sex determination 112

45 Congenital abnormalities, pre-embryonic, embryonic and of intrinsic causation 114

46 Congenital abnormalities arising at the fetal stage 117

47 Development of the heart 120

48 Cardiac abnormalities 122

49 Facial development and dysmorphology 124

Part 9 Multifactorial inheritance and twin studies

50 Principles of multifactorial disease 127

51 Multifactorial disease in children 130

52 Common disorders of adult life 133

53 Twin studies 136

Part 10 Cancer

54 The signal transduction cascade 138

55 The eight hallmarks of cancer 140

56 Familial cancers 142

57 Genomic approaches to cancer management 144

Part 11 Biochemical genetics

58 Disorders of amino acid metabolism 146

59 Disorders of carbohydrate metabolism 149

60 Metal transport, lipid metabolism and amino acid catabolism defects 152

61 Disorders of porphyrin and purine metabolism and the urea/ornithine cycle 156

62 Lysosomal, glycogen storage and peroxisomal diseases 160

63 Biochemical diagnosis 165

Part 12 Immunogenetics

64 Immunogenetics, cellular and molecular aspects 168

65 Genetic disorders of the immune system 170

66 Autoimmunity, HLA and transplantation 173

Part 13 Molecular diagnosis

67 DNA hybridization-based analysis systems 176

68 DNA sequencing 179

69 The polymerase chain reaction 182

70 DNA profiling 184

Part 14 Genetic counselling, disease management, ethical and social issues

71 Reproductive genetic counselling 186

72 Prenatal sampling 188

73 Avoidance and prevention of disease 191

74 Management of genetic disease 194

75 Ethical and social issues in clinical genetics 197

Self-assessment case studies: questions 200

Self-assessment case studies: answers 205

Glossary 214

Appendix 1: the human karyotype 219

Appendix 2: information sources and resources 220

Index 222

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