Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling

Fifth edition

R.J. McKinlay Gardner and David J. Amor

Oxford Monographs on Medical Genetics

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

BMA Basic and Clinical Sciences Category Highly Commended

Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling

Fifth edition

R.J. McKinlay Gardner and David J. Amor

Oxford Monographs on Medical Genetics

Description

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're 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.

BMA Basic and Clinical Sciences Category Highly Commended

Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling

Fifth edition

R.J. McKinlay Gardner and David J. Amor

Oxford Monographs on Medical Genetics

Preface
Acknowledgments

PART ONE: BASIC CONCEPTS

1. Elements of Medical Cytogenetics
2. Chromosome Analysis
3. The Origins and Consequences of Chromosome Pathology
4. Deriving and Using a Risk Figure

PART TWO: PARENT WITH A CHROMOSOMAL ABNORMALITY

5. Autosomal Reciprocal Translocations
6. Sex Chromosome Translocations
7. Robertsonian Translocations
8. Insertions
9. Inversions
10. Complex Chromosomal Rearrangements
11. Autosomal Ring Chromosomes
12. Rare Conditions: Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, Neocentromeres, Jumping Translocations, and Chromothripsis
13. Down Syndrome, Other Full Aneuploidies, Polyploidy, and the Influence of Parental Age
14. Autosomal Structural Rearrangements: Deletions and Duplications
15. Sex Chromosome Aneuploidy and Structural Rearrangement
16. Chromosome Instability Syndromes

PART THREE: CHROMOSOME VARIANTS

17. Normal Chromosomal Variation

PART FOUR: DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING

18. Uniparental Disomy and Disorders of Imprinting

PART FIVE: REPRODUCTIVE CYTOGENETICS

19. Reproductive Failure
20. Prenatal Testing Procedures
21. Chromosome Abnormalities Detected at Prenatal Diagnosis
22. Preimplantation Genetic Diagnosis

PART SIX: DISORDERS OF SEX DEVELOPMENT

23. Chromosomal Disorders of Sex Development

PART SEVEN: NOXIOUS AGENTS

24. Gonadal Cytogenetic Damage from Exposure to Extrinsic Agents

APPENDICES

A. Ideograms of Human Chromosomes and Haploid Autosomal Lengths
B. Cytogenetic Abbreviations and Nomenclature
C. Determining 95 Percent Confidence Limits and the Standard Error

References

Index

BMA Basic and Clinical Sciences Category Highly Commended

Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling

Fifth edition

R.J. McKinlay Gardner and David J. Amor

Oxford Monographs on Medical Genetics

Author Information

R.J. McKinlay Gardner is an adjunct professor at the University of Otago and former consultant geneticist at Genetic Health Services New Zealand, Victorian Clinical Genetics Services, and Genetic Health Queensland. He lives in Dunedin, New Zealand.

David J. Amor is the Lorenzo and Pamela Galli Chair at the University of Melbourne and a consultant clinical geneticist and former Director of Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.

BMA Basic and Clinical Sciences Category Highly Commended

Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling

Fifth edition

R.J. McKinlay Gardner and David J. Amor

Oxford Monographs on Medical Genetics

Reviews and Awards

Shortlisted for the Basic and Clinical Sciences category of the British Medical Association Book Awards 2019

"This is an excellent book and a vital piece of work for clinical geneticists and counsellors." -- BMA reviewing panel, BMA Medical Book Awards 2019

"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." -- Doody's