Gardner: Chromosome Abnormalities

Contents ; BASIC CONCEPTS ; 1. Elements of medical cytogenetics ; 2. Chromosome analysis: classical and modern methodologies ; 3. The origins and consequences of chromosomal pathology ; 4. Deriving and using a risk figure ; PARENT WITH A CHROMOSOMAL ABNORMALITY ; 5. Autosomal reciprocal translocations ; 6. Sex chromosome translocations ; 7. Robertsonian translocations ; 8. Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, and Jumping Translocations ; 9. Inversions ; 10. Insertions ; 11. Autosomal ring chromosomes ; 12. Complex rearrangements ; 13. Parental sex chromosome aneuploidy ; 14. Parental autosomal aneuploidy ; 15. The fragile X syndromes ; VARIANTS ; 16. Variant chromosomes and abnormalities of no phenotypic consequence ; 17. Copy number variants ; NORMAL PARENT WITH A CHROMOSOMALLY ABNORMAL CHILD ; 18. Down syndrome, other full aneuploidies, and polyploidy ; 19. Structural rearrangements ; 20. Chromosomal disorders of sex development ; 21. Chromosome instability syndromes ; DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING ; 22. Uniparental disomy and disorders of imprinting ; REPRODUCTIVE FAILURE ; 23. Gametogenesis and conception, pregnancy loss, and infertility ; PRENATAL DIAGNOSIS ; 24. Parental age counseling and screening for fetal trisomy ; 25. Prenatal diagnostic procedures ; 26. Preimplantation genetic diagnosis ; 27. Chromosome abnormalities detected at prenatal diagnosis ; NOXIOUS AGENTS ; 28. Gonadal cytogenetic damage from exposure to extrinsic agents ; APPENDICES ; A. Ideograms of human chromosomes and haploid autosomal lengths ; B. Cytogenetic abbreviations and nomenclature ; C. Determining 95 per cent confidence limits and the standard error ; References ; Index

Lisa G. Shaffer is President of Signature Genomic Laboratories. R.J. McKinlay Gardner is a Consultant Medical Geneticist at Northern Regional Genetic Service at Auckland City Hospital. Grant R. Sutherland is an Emeritus Geneticist at Women's and Children's Hospital in Adelaide, Australia.