Chromosome Abnormalities and Genetic Counseling

Chromosome Abnormalities and Genetic Counseling
4th Ed.
2012 © Oxford University Press, Inc.
Grant R Sutherland; Lisa G. Shaffer; R.J.M Gardner
ISBN-10: 0-19-537533-5 / ISBN-13: 978-0-19-537533-6
Genetics, Histology


Chromosome abnormalities have been known for over 50 years, though the methods of analysis have become increasing more sophisticated and precise. Surprisingly, the questions that parents and families raise in genetic counseling have changed little over that period. Questions like, "Why did an abnormality happen? Why did it cause the problems we see in our child? Would it happen again in a future child? How could we avoid it happening again?" are common concerns for families.

This new edition of Chromosome Abnormalities and Genetic Counseling deals with these universal questions, and in the context of the recent developments in molecular cytogenetic analysis, but retaining always the major focus on the needs of the families in which these conditions occur. Thoroughly updated once again, this richly-illustrated text combines basic concepts of chromosomal analysis with practical applications of recent advances in molecular cytogentics. The book will give counselors the information that will enable them to help concerned parents accommodate and adapt to their particular chromosomal challenges and to determine what may be, for them, the best course of action.


• Brings together underlying science and clinical practice in a seamless way for geneticists and genetic counselors
• A brief and concise review of chromosome pathology is included, enough to refresh the memory without insulting the reader's intelligence
• Part of the Oxford Monographs on Medical Genetics series

Quotes, Reviews or Testimonials

"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 of Paediatrics and Child Health - Previous Edition


The primary audience for this new edition includes genetic counselors, medical geneticists, pediatricians and obstetricians, infertility specialists, and cytogenetic laboratory scientists.

Table of Contents

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