Chromosome Abnormalities and Genetic Counseling

BASIC CONCEPTS; 1. Elements of medical cytogenetics; 2. The origins and consequences of chromosome pathology; 3. Deriving and using a risk figure; PARENT WITH A CHROMOSOMAL ABNORMALITY; 4. Autosomal reciprocal translocations; 5. Sex chromosome translocations; 6. Robertsonian translocations; 7. Centromere fissions; 8. Inversions; 9. Insertions; 10. Autosomal rings; 11. Complex rearrangements; 12. Parental sex chromosome aneuploidy; 13. Parental autosomal aneuploidy; 14. The fragile X syndrome; 15. Variant chromosomes; NORMAL PARENTS WITH A CHROMOSOMALLY ABNORMAL CHILD; 16. Down syndrome and other full aneuploidy, and polyploidy; 17. Structural rearrangements and uniparental disomy; 18. The XY female, the XX male, and the true hermaphrodite; 19. Chromosome instability syndromes; REPRODUCTIVE FAILURE; 20. Pregnancy loss and infertility; PRENATAL DIAGNOSIS; 21. Parental age counseling and screening for fetal trisomy; 22. Prenatal diagnostic procedures; 23. Chromosome abnormalities detected at prenatal diagnosis; APPENDIXES; A. Cytogenetic abbreviations and nomenclature; B. Ideograms of human chromosomes and haploid autosomal lengths; C. Determining 95 percent confidence limits, and the standard error; References; Index