Elements of Medical Genetics

Elements of Medical Genetics

4 (13 ratings by Goodreads)
By (author)  , Revised by  , Revised by 

List price: US$36.95

Currently unavailable

Add to wishlist

AbeBooks may have this title (opens in new window).

Try AbeBooks


This is an excellent textbook of medical genetics covering both the scientific basis and clinical practice of this fast moving area. Over the last two editions, this well established book has changed radically fin appearance and content, being transformed from a relatively dull small-format single colour book into a large format, two colour developed text book. For this new edition the page design has been retained but the content has been thoroughly updated. Features: * New to this edition: * Single Gene Disorder chapter includes Huntingdon's Disease, Myotonic Dystrophy, Marfan's Syndrome. Hereditary Motor Sensory Neuropathy and Spinal Muscular Atrophy. * Cancer Genetics chapter enlarged to include BRCA1, BRCA2 and mismatched repair genes in familiar cancer. * Update on progress in the Human Genome Project and developments in gene therapy. * Concept of Triplet Repeat/Unstable Mutations has been expanded. * Developmental Genetics chapter will include ret oncopgene, SOX genes, the FGFR genes and craniosynostosis.
show more

Product details

  • Paperback | 376 pages
  • 216 x 276mm | 962g
  • London, United Kingdom
  • English
  • Revised
  • 10th Revised edition
  • 0443059020
  • 9780443059025

Table of contents

Section A Principles of human genetics: the history and impact of genetics in medicine; the cellular and molecular basis of inheritance; chromosomes; recombinant DNA technology; developmental genetics; patterns of inheritance; mathematical and population genetics; polygenic and multifactorial inheritance. Section B Genetics in medicine: haemoglobin and the haemoglobinopathies; biochemical genetics; pharmacogenetics; immunogenetics; the genetics of cancer; genetic factors in common diseases; genetics and congenital abnormalities. Section C Clinical genetics: genetic counselling; chromosome disorders; single gene disorders; carrier detection and presymptomatic diagnosis; risk calculation; prenatal diagnosis of genetic disease; population screening and community genetics; the human genome project, treatment of genetic disease and gene therapy; ethical considerations.
show more

Rating details

13 ratings
4 out of 5 stars
5 46% (6)
4 23% (3)
3 15% (2)
2 15% (2)
1 0% (0)
Book ratings by Goodreads
Goodreads is the world's largest site for readers with over 50 million reviews. We're featuring millions of their reader ratings on our book pages to help you find your new favourite book. Close X