Chromosome Abnormalities and Genetic Counseling

Chromosome Abnormalities and Genetic Counseling
5th Ed.
2018 © Oxford University Press, Inc.
R.J. McKinlay Gardner; David J. Amor
ISBN-13: 978-0-19-932900-7
Genetics, Histology


Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they are likely to occur again.

Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve.

Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.

  • • A complete revision of the classic guide to chromosome disorders and how parents and patients can be advised about them
  • • Seamless integration of underlying science and clinical practice make it an accessible, essential resource for geneticists, genetic counselors, and laboratory professionals
  • • Reflects the ongoing transition from classic cytogenetics and molecular karyotyping, including the wave of "new" duplication and deletion syndromes
  • • Part of the venerated Oxford Monographs on Medical Genetics series

New to this Edition:

  • • Thoroughly updated, building on the beloved four previous editions
  • • Provides answers and guidance to practically every chromosomal question the counselor is likely to encounter in the clinic
  • • Extensive listing of deletion and duplication syndromes
  • • Addresses the challenging issue of copy number variants
  • • Includes overview of the roles of new molecular methodologies in prenatal and preimplantation diagnosis

Doody's Reviews

Score: 100/100
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Quotes, Reviews or Testimonials

"This unique book is a must-read, must-have book in genetic counseling and medical genetics. It is clear that this is an ongoing project as the knowledge on molecular cytogenetics evolves rapidly, necessitating future editions. The authors keep their goals and focus well delineated, which makes this book a wonderful tool."

-- Luis Escobar, MD., MS. (Peyton Manning Children's Hospital)- Doody's Review

"As one who has watched human cytogenetics from its birth in 1956 to its present extraordinary capabilities and who counsels families with chromosomal problems without ever having learned how to prepare a karyotype, I found this book a godsend...The writing is rigorous and often elegant. Gardner and Sutherland have the necessary knowledge to and provide useful assessments of the available information."

-- New England Journal of Medicine - Previous Edition

"Chromosome Abnormalities and Genetic Counseling is a comprehensive text encompassing a full complement of cytogenetic information. Concepts are introduced such as basic cytogenetic elements, ethical and counseling issues and the handling of risk figures. A brief and concise review of chromosome pathology is included, enough to refresh the memory without insulting the reader's intelligence...This book is a wonderful asset to any library and can serve either as an educational text or as a reference."

-- Applied Cytogentics - Previous Edition

"...this book has been written primarily for two groups of readers: the genetic counsellor (both medical and nonmedical) and the cytogenetic laboratory scientist. There are substantial sections of the book, however, which are of relevance to paediatricians...The authors are to be congratulated, not only because their book is one of the best of its kind, written in a clear and balanced manner and practically oriented!"

-- Journal o


It is clear from the preface that this book intends to serve several audiences. As the title suggests, it is a unique tool for genetic counseling groups. However, clinical geneticists, medical students, medical genetic residents, and pediatric residents will find it useful as well. It is an extensive review that will provide them with a detailed knowledge base to deal with molecular cytogenetic questions at multiple levels. The authors' recognition as experts in the field is well documented and their book meets the needs of the intended audience.

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