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