Chromosomal abnormalities can cause disability in children, and reproductive difficulty in parents. Many parents and couples seek genetic counselling in order to learn why they, or a relative, may have had a child with a particular collection of medical problems and/or intellectual disability. There may have been a history of multiple miscarriage, or infertility. They may want to know the outlook for a pregnancy, and what the risks might be. These and other questions concerning chromosome abnormalities are addressed in this standard text, which will be of interest to genetic counsellors, medical geneticists, paediatricians and obstetricians, infertility specialists, and laboratory cytogeneticists. This third edition has been thoroughly updated, and is richly illustrated and fully referenced. New chapters have been written on preimplantation diagnosis and recent advances in molecular cytogenetics are noted. The book will give counsellors the information that will enable them to help concerned parents accommodate to their particular "chromosomal situation", and to determine what may be, for them, the best course of action.
PART Iorigins 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