ISBN-10:
0199329001
ISBN-13:
9780199329007
Pub. Date:
03/06/2018
Publisher:
Oxford University Press
Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling / Edition 5

Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling / Edition 5

by R.J. McKinlay Gardner, David J. AmorR.J. McKinlay Gardner
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Overview


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.

Product Details

ISBN-13: 9780199329007
Publisher: Oxford University Press
Publication date: 03/06/2018
Series: Oxford Monographs on Medical Genetics Series
Edition description: New Edition
Pages: 728
Product dimensions: 7.10(w) x 10.10(h) x 1.40(d)

About the Author



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.

Table of Contents



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

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