Gardner and Sutherland’s Chromosome Abnormalities and Genetic Counseling 5th Edition R.J. Mckinlay Gardner

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

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