Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling

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

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• Medicina interna e clínica
• Genética médica
• Citopatologia