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의료법규. 논문작성. 병원경영. 통계
의료법규. 논문작성. 병원경영
Gardner and Sutherland` Chromosome Abnormalities and Genetic Counseling-5판
저 자 : McKinlay Gardner
출판사 : Oxford
ISBN(13) : 9780199329007
발행일 : 2018-03-06 / 5 판 / 728 페이지
상품코드 : 26579
수 량 :
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
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
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