Chromosome Abnormalities and Genetic Counseling-5판

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.




PART ONE: BASIC CONCEPTS
　1. Elements of Medical Cytogenetics,　3
　2. Chromosome Analysis,　20
　3. The Origins and Consequences of Chromosome Pathology,　26
　4. Deriving and Using a Risk Figure,　59


PART TWO: PARENT OR CHILD WITH A CHROMOSOMAL ABNORMALITY
　5. Autosomal Reciprocal Translocations,　69
　6. Sex Chromosome Translocations,　113
　7. Robertsonian Translocations,　142
　8. Insertions,　158
　9. Inversions,　177
　10. Complex Chromosomal Rearrangements,　201
　11. Autosomal Ring Chromosomes,　210
　12. Centromere Fission, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary
　　　Chromosomes, Neocentromeres, Jumping Translocations, and Chromothripsis,　222
　13. Down Syndrome, Other Full Aneuploidies, Polyploidy, and the Influence of Parental Age,　229
　14. Autosomal Structural Rearragements: Deletions and Duplications,　256
　15. Sex Chromosome Aneuploidy and Structural Rearrangement,　337
　16. Chromosome Instability Syndromes,　359


PART THREE: CHROMOSOME VARIANTS
　17. Normal Chromosomal Variation,　369


PART FOUR: DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING
　18. Uniparental Disomy and Disorders of Imprinting,　387


PART FIVE: REPRODUCTIVE CYTOGENETICS
　19. Reproductive Failure,　421
　20. Prenatal Testing Procedures,　447
　21. Chromosome Abnormalities Detected at Prenatal Diagnosis,　466
　22. Preimplantation Genetic Diagnosis,　516


PART SIX: DISORDERS OF SEX DEVELOPMENT
　23. Chromosomal Disorders of Sex Development,　535


PART SEVEN: NOXIOUS AGENTS
　24. Gonadal Cytogenetic Damage from Exposure to Extrinsic Agents,　547


APPENDIXES
　A. Ideograms of Human Chromosomes, and Haploid Autosomal Lengths,　557
　B. Cytogenetic Abbreviations and Nomenclature,　563
　C. Determining 95 Percent Confidence Limits, and the Standard Error,　569