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.

• 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: PHENOTYPES25. 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

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.

• 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: PHENOTYPES25. 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