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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.
About the Author
R.J. McKinlay Gardner is an adjunct professor at the University of Otago and former consultant geneticist at Genetic Health Services New Zealand, Victorian Clinical Genetics Services, and Genetic Health Queensland. He lives in Dunedin, New Zealand.
David J. Amor is the Lorenzo and Pamela Galli Chair at the University of Melbourne and a consultant clinical geneticist and former Director of Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
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 WITH A CHROMOSOMAL ABNORMALITY
5. Autosomal Reciprocal Translocations
6. Sex Chromosome Translocations
7. Robertsonian Translocations
10. Complex Chromosomal Rearrangements
11. Autosomal Ring Chromosomes
12. Rare Conditions: 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
PART FOUR: DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING
18. Uniparental Disomy and Disorders of Imprinting
PART FIVE: REPRODUCTIVE CYTOGENETICS
19. Reproductive Failure
20. Prenatal Testing Procedures
21. Chromosome Abnormalities Detected at Prenatal Diagnosis
22. Preimplantation Genetic Diagnosis
PART SIX: DISORDERS OF SEX DEVELOPMENT
23. Chromosomal Disorders of Sex Development
PART SEVEN: NOXIOUS AGENTS
24. Gonadal Cytogenetic Damage from Exposure to Extrinsic Agents
A. Ideograms of Human Chromosomes and Haploid Autosomal Lengths
B. Cytogenetic Abbreviations and Nomenclature
C. Determining 95 Percent Confidence Limits and the Standard Error