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Medical Genetics for the MRCOG and Beyond

2nd Edition

  • Date Published: March 2014
  • availability: Available
  • format: Paperback
  • isbn: 9781107661301

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  • This second edition has been comprehensively updated to reflect current clinical practice and the latest technical developments, including pre-implantation genetic diagnosis, array CGH, QF-PCR, non-invasive prenatal diagnosis and next generation sequencing amongst others. The first section covers basic principles, while the second outlines the more common situations where obstetrics and gynaecology interact with medical genetics. The third section contains real-life clinical case scenarios which have been selected to represent typical problems and to highlight areas which, if mismanaged, could have serious medico-legal consequences. Together with its accompanying website (www.essentialmedgen.com), it provides an invaluable guide to the use and selection of useful online genetic resources. This book is essential reading for candidates preparing for the MRCOG postgraduate examination, and any health professionals requiring a clear understanding of medical genetics and its increasingly frequent uses in obstetrics and gynaecology, where incorrect genetic advice can have serious consequences.

    • Accompanying website with regularly updated links to 70 global genetics-related databases provides direct access from one portal to many useful resources
    • Includes 29 case studies allowing readers to learn from real experience and helping them to make correct decisions, avoiding potentially severe medical and legal consequences
    • The principles of medical genetics are described in a simple and understandable way giving readers a good grounding in this complex subject
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    'The book has ambitious objectives, and does a good job meeting them.' Doody's Reviews

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    Product details

    • Edition: 2nd Edition
    • Date Published: March 2014
    • format: Paperback
    • isbn: 9781107661301
    • length: 143 pages
    • dimensions: 217 x 138 x 8 mm
    • weight: 0.21kg
    • contains: 26 b/w illus. 56 colour illus.
    • availability: Available
  • Table of Contents

    Abbreviations
    Glossary
    Preface
    Part I. General Principles of Medical Genetics: Introduction
    Normal human inheritance
    Types of genetic disease
    Chromosomal disorders
    Single-gene disorders
    Multifactorial (or part-genetic) disorders
    Somatic cell (or cumulative) genetic disorders
    Drawing the family tree
    Interpreting the family tree
    DNA analysis
    Chromosome analysis
    Preimplantation genetic diagnosis (PGD)
    Cell-free fetal DNA testing
    Referral for genetic assessment and counselling
    Part II. Common Genetic Problems in Obstetric and Gynaecological Practice: Introduction
    Genetic causes of infertility
    Genetic causes of recurrent miscarriages
    Elevated maternal screening risk
    Cystic fibrosis
    Family history
    Reference
    Part III. Clinical Case Scenarios: Introduction
    Case 1. Unexpected finding at amniocentesis
    Case 2. Lethal short-limbed skeletal dysplasia
    Case 3. Family history of Down syndrome
    Case 4. Family history of Huntington disease
    Case 5. Family history of Duchenne muscular dystrophy
    Case 6. Unexplained high level of maternal serum alphafetoprotein (MSAFP)
    Case 7. Family history of siblings with Goldenhar syndrome
    Case 8. Family history of microcephaly
    Case 9. Unexpected finding at amniocentesis
    Case 10. Family history of Down syndrome
    Case 11. Importance of genetic ancestry
    Case 12. Never say never
    Case 13. Unexpected finding at amniocentesis
    Case 14. Inherited limb abnormality
    Case 15. Multiple congenital abnormalities
    Case 16. Family history of cystic fibrosis
    Case 17. Previous obstetric history of trisomy 13
    Case 18. Previous obstetric history of hydrocephalus
    Case 19. Maternal congenital heart disease
    Case 20. Family history of neonatal myotonic dystrophy
    Case 21. Unexpected finding at amniocentesis
    Case 22. Previous obstetric history of a fetus with multiple congenital malformations
    Case 23. Accidental X-ray in early pregnancy
    Case 24. Genetic mimicry
    Case 25. Previous obstetric history of an intrauterine death with cystic hygroma
    Case 26. Where possible verify the diagnosis
    Case 27. Beware of variable expressivity
    Case 28. Provision of patient-appropriate literature for rare conditions
    Case 29. Searching for online sources of specialist information regarding rare genetic conditions
    Appendix. Guide to online sources of genetic information
    Clinical information
    Patient support groups
    Further reading
    Index.

  • Authors

    Edward S. Tobias, University of Glasgow
    Edward S. Tobias is Professor of Genetic Medicine (Medical Genetics), School of Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, and Honorary Consultant in Medical Genetics, West of Scotland Genetic Services, Southern General Hospital, Glasgow, UK.

    J. Michael Connor, University of Glasgow
    J. Michael Connor (recently retired) was formerly Professor of Medical Genetics, School of Medicine, University of Glasgow, and Director of the West of Scotland Regional Genetics Service of the Institute of Medical Genetics in Glasgow.

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