Mehr lesen
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.
Inhaltsverzeichnis
- 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
Über den Autor / die Autorin
David J. Amor is a clinical geneticist based in Melbourne, Australia. He trained in pediatrics and genetics at the Royal Children's Hospital before completing a PhD in chromosome biology at the Murdoch Children's Research Institute. In 2016 he was appointed to the Lorenzo and Pamela Galli Chair in Developmental Medicine at the University of Melbourne, prior to which he was Director of Victorian Clinical Genetics Services.
R.J. McKinlay Gardner has had a long career in Medical Genetics, practicing in New Zealand, Australia, the United Kingdom, and Canada. His main interests have been in chromosomal disorders, and neurogenetic disease. He continues, in retirement, to teach medical students at the University of Otago as an Adjunct Professor.
