Description
Chromosome abnormalities occur in about one in a hundred people, and present complex challenges for medical geneticists and genetic counselors. In addition to identifying chromosomal abnormalities, genetics professionals must explain the "unexplainable," helping families understand why chromosome disorders occur and how likely they are to occur again. Chromosome Abnormalities and Genetic Counseling is the definitive guide to navigating chromosome disorders and clinical questions posed by the families they impact. It incorporates the latest advances in molecular technologies and prenatal diagnosis, while also revisiting the classical understanding of chromosomal pathology; the well-known trisomies, deletions, and duplication syndromes; and ways in which these may arise de novo or occur in the setting of a parental chromosome rearrangement. This new edition includes three entirely new chapters on copy number variants, chromosome abnormalities associated with selected phenotypes, and ethical and counseling issues.Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, the 6th edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is more than just a reference text; it is a holistic guide to thinking about these disorders, even as our technical understanding of them continues to evolve.
Table of Contents
PART ONE: BASIC CONCEPTS 1. Elements of Medical Cytogenetics 2. Chromosome Analysis 3. The Origins and Consequences of Chromosome Pathology 4. Deriving and Using a Risk Figure PART TWO: PARENT OR CHILD WITH A CHROMOSOMAL ABNORMALITY 5. Autosomal Reciprocal Translocations 6. Sex Chromosome Translocations 7. Robertsonian Translocations 8. Insertions 9. Inversions 10. Complex Chromosomal Rearrangements 11. Autosomal Ring Chromosomes 12. Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, Neocentromeres, Jumping Translocations, and Chromothripsis 13. Down Syndrome, Other Full Aneuploidies, Polyploidy, and the Influence of Parental Age 14. Autosomal Structural Rearrangements: Deletions and Duplications 15. Sex Chromosome Aneuploidy and Structural Rearrangement 16. Chromosome Instability Syndromes PART THREE: CHROMOSOME VARIANTS 17. Normal Chromosomal Variation 18. Copy Number Variants PART FOUR: DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING 19. Uniparental Disomy and Disorders of Imprinting PART FIVE: REPRODUCTIVE CYTOGENETICS 20. Reproductive Failure 21. Prenatal Testing Procedures 22. Chromosome Abnormalities Detected at Prenatal Diagnosis 23. Preimplantation Genetic Diagnosis PART SIX: DISORDERS OF SEX DEVELOPMENT 24. Chromosomal Disorders of Sex Development PART SEVEN: PHENOTYPES25. Chromosomal PhenotypesPART EIGHT: NOXIOUS AGENTS 26. Gonadal Cytogenetic Damage from Exposure to Extrinsic Agents PART NINE: ETHICS 27. Ethical Issues APPENDIXES A. Ideograms of Human Chromosomes B. Cytogenetic Nomenclature C. Penetrance Data for Certain Copy Number Variants
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