Description
Trade ReviewThis is an excellent book and a vital piece of work for clinical geneticists and counsellors. * BMA reviewing panel, BMA Medical Book Awards 2019 *
An essential resource. A compulsory text for cytogeneticists, geneticists, and genetic counselors in training, and highly suitable for as a reference for other health professionals who encounter patients and families with chromosome abnormalities. * BMJ *
Table of ContentsPrefaceAcknowledgmentsPART ONE: BASIC CONCEPTS1. Elements of Medical Cytogenetics2. Chromosome Analysis3. The Origins and Consequences of Chromosome Pathology4. Deriving and Using a Risk FigurePART TWO: PARENT WITH A CHROMOSOMAL ABNORMALITY5. Autosomal Reciprocal Translocations6. Sex Chromosome Translocations7. Robertsonian Translocations8. Insertions9. Inversions10. Complex Chromosomal Rearrangements11. Autosomal Ring Chromosomes12. Rare Conditions: Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, Neocentromeres, Jumping Translocations, and Chromothripsis13. Down Syndrome, Other Full Aneuploidies, Polyploidy, and the Influence of Parental Age14. Autosomal Structural Rearrangements: Deletions and Duplications15. Sex Chromosome Aneuploidy and Structural Rearrangement16. Chromosome Instability SyndromesPART THREE: CHROMOSOME VARIANTS17. Normal Chromosomal VariationPART FOUR: DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING18. Uniparental Disomy and Disorders of ImprintingPART FIVE: REPRODUCTIVE CTYOGENETICS19. Reproductive Failure20. Prenatal Testing Procedures21. Chromosome Abnormalities Detected at Prenatal Diagnosis22. Preimplantation Genetic DiagnosisPART SIX: DISORDERS OF SEX DEVELOPMENT23. Chromosomal Disorders of Sex DevelopmentPART SEVEN: NOXIOUS AGENTS24. Gonadal Cytogenetic Damage from Exposure to Extrinsic AgentsAPPENDICESA. Ideograms of Human Chromosomes and Haploid Autosomal LengthsB. Cytogenetic Abbreviations and NomenclatureC. Determining 95 Percent Confidence Limits and the Standard ErrorReferencesIndex
