Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling
Series: Oxford Monographs on Medical Genetics;
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Product details:
- Edition number 6
- Publisher OUP USA
- Date of Publication 2 March 2026
- ISBN 9780197747728
- Binding Hardback
- No. of pages1024 pages
- Size 255x185x49 mm
- Weight 2300 g
- Language English
- Illustrations 422 figures 700
Categories
Short description:
Chromosome Abnormalities and Genetic Counseling, 6th Edition is the genetics professional's definitive guide to navigating chromosome disorders and clinical questions posed by the families they impact. Thoroughly updated and building on the beloved five previous editions, the book includes three entirely new chapters on copy number variants, chromosomal phenotypes, and ethical and counseling issues.
MoreLong description:
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.
Table of Contents:
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 OR CHILD 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. 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
18. Copy Number Variants
PART FOUR: DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING
19. Uniparental Disomy and Disorders of Imprinting
PART FIVE: REPRODUCTIVE CYTOGENETICS
20. Reproductive Failure
21. Prenatal Testing Procedures
22. Chromosome Abnormalities Detected at Prenatal Diagnosis
23. Preimplantation Genetic Diagnosis
PART SIX: DISORDERS OF SEX DEVELOPMENT
24. Chromosomal Disorders of Sex Development
PART SEVEN: PHENOTYPES
25. Chromosomal Phenotypes
PART EIGHT: NOXIOUS AGENTS
26. Gonadal Cytogenetic Damage from Exposure to Extrinsic Agents
PART NINE: ETHICS
27. Ethical Issues
APPENDIXES
A. Ideograms of Human Chromosomes
B. Cytogenetic Nomenclature
C. Penetrance Data for Certain Copy Number Variants
