Chromosome Abnormalities and Genetic Counseling

PART I: BASIC CONCEPTS; 1. Elements of medical cytogenetics; 2. The origins and consequences of chromosome pathology; 3. Deriving and using a risk figure; PART II: PARENT WITH A CHROMOSOMAL ABNORMALITY; 4. Autosomal reciprocal translocations; 5. Sex chromosome translocations; 6. Robertsonian translocations; 7. Centromere fissions, complementary isochromosomes, and telomeric fusions; 8. Inversions; 9. Insertions; 10. Autosomal ring chromosomes; 11. Complex rearrangements; 12. Parental sex chromosome aneuploidy; 13. Parental autosomal aneuploidy; 14. The fragile X syndromes; 15. Variant chromosomes and abnormalities of no phenotypic consequence; PART III: NORMAL PARENTS WITH A CHROMOSOMALLY ABNORMAL CHILD; 16. Down syndrome, other full aneuploidies, and polyploidy; 17. Structural rearrangements; 18. The XY female, the XX male, and the true hemaphrodite; 19. Chromosome instability syndromes; PART IV: DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING; 20. Uniparental disomy and disorders of imprinting; PART V: REPRODUCTIVE FAILURE; 21. Gametogenesis and conception, pregnancy loss and infertility; PART VI: PRENATAL DIAGNOSIS; 22. Parental age counseling and screening for fetal trisomy; 23. Prenatal diagnostic procedures; 24. Preimplantation genetic diagnosis; 25. Chromosome abnormalities detected at prenatal diagnosis; PART VII: NOXIOUS AGENTS; 26. Gonadal chromosomal 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