Chromosome Abnormalities and Genetic Counseling
Title Details
6th Ed.
© Oxford University Press 2026
David J. Amor; R.J. McKinlay Gardner
ISBN-13: 978-0-19-774772-8
eISBN-13: 978-0-19-774774-2
Genetics, Histology
Additional Details
Chromosome abnormalities occur in about one in a hundred people, and present complex challenges for medical geneticists and genetic counselors. In addition to identifying chromosomal abnormalities, genetics professionals must explain the "unexplainable," helping families understand why chromosome disorders occur and how likely they are to occur again.
Chromosome Abnormalities and Genetic Counseling is the definitive guide to navigating chromosome disorders and clinical questions posed by the families they impact. It incorporates the latest advances in molecular technologies and prenatal diagnosis, while also revisiting the classical understanding of chromosomal pathology; the well-known trisomies, deletions, and duplication syndromes; and ways in which these may arise de novo or occur in the setting of a parental chromosome rearrangement. This new edition includes three entirely new chapters on copy number variants, chromosome abnormalities associated with selected phenotypes, and ethical and counseling issues.
Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, the 6th edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is more than just a reference text; it is a holistic guide to thinking about these disorders, even as our technical understanding of them continues to evolve.
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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Doody's Review
"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 - previous edition
"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
Specialty Score: 2.6 Health Sciences - Clinical Genetics
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