Full Description
Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again.
Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve.
Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.
Contents
PrefaceAcknowledgmentsPART 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
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