Description
Book SynopsisHistory of Clinical Cytogenetics.- DNA, Chromosomes, and Cell Division.- Human Chromosome Nomenclature: An Overview and Definition of Terms.- Basic Cytogenetics Laboratory Procedures.- The Essentials of Light Microscopy.- Quality Control & Quality Assurance.- Instrumentation in the Cytogenetics Laboratory.- Autosomal Aneuploidy.- Structural Chromosome Rearrangements.- Sex Chromosomes, Sex Chromosome Disorders, and Disorders of Sex Development.- The Cytogenetics of Infertility.- Prenatal Cytogenetics.- The Cytogenetics of Spontaneous Abortion.- Chromosome Instability.- The Cytogenetics of Hematologic Neoplasms.- The Cytogenetics of Solid Tumors.- Fluorescence in situ Hybridization (FISH).- Microarray-Based Cytogenetics.- Fragile X: A Family of Disorders: Changing Phenotype and Molecular Genetics.- Genomic Imprinting and Uniparental Disomy.- Genetic Counseling.
Trade ReviewFrom the reviews of the third edition:
“The audience includes those performing clinical cytogenetic testing or using results for genetic counseling or clinical care. It also would be of interest to anyone interested in cytogenetic analysis and application, from healthcare providers … to the educated lay public. … This is truly a remarkable and comprehensive book on clinical cytogenetics. … You would also want this book as a handy reference for which genetic abnormality is associated with what disease, and the best test method to use to identify the suspected abnormality.” (Valerie Ng, Doody’s Book Reviews, July, 2013)
Table of ContentsSECTION 1 - Basic Concepts and Background
1. History of Clinical Cytogenetics
Steven L. Gersen
2. DNA, Chromosomes, and Cell Division
Martha B. Keagle
3. Human Chromosome Nomenclature: An Overview and Definition of Terms
Marilyn L. Slovak, Aaron Theisen, and Lisa G. Shaffer
SECTION II - Examining and Analyzing Chromosomes
4. Basic Cytogenetics Laboratory Procedures
Martha B. Keagle and Steven L. Gersen
5. The Essentials of Light Microscopy
Nathan Claxton and Stephen Ross
6. Quality Control & Quality Assurance
Martha B. Keagle
7. Instrumentation in the Cytogenetics Laboratory
Steven L. Gersen
SECTION III – Clinical Cytogenetics
8. Autosomal Aneuploidy
Jin-Chen C. Wang
9. Structural Chromosome Rearrangements
Kathleen Kaiser-Rogers and Kathleen Rao
10. Sex Chromosomes, Sex Chromosome Disorders, and Disorders of Sex Development
Cynthia M. Powell
11. The Cytogenetics of Infertility
Linda Marie Randolph
12. Prenatal Cytogenetics
Linda Marie Randolph
13. The Cytogenetics of Spontaneous Abortion
Solveig M. V. Pflueger
14. Chromosome Instability
Xiao-Xiang Zhang
SECTION IV – Cancer Cytogenetics
15. The Cytogenetics of Hematologic Neoplasms
Aurelia Meloni-Ehrig
16. The Cytogenetics of Solid Tumors
Linda D. Cooley and Kathleen S. Wilson
SECTION V - Adjunct Technologies
17. Fluorescence in situ Hybridization (FISH)
Daynna J. Wolff
18. Microarray-Based Cytogenetics
Lisa G. Shaffer
SECTION VI – Beyond Chromosomes
19. Fragile X: A Family of Disorders: Changing Phenotype and Molecular Genetics
Elaine B. Spector
20. Genomic Imprinting and Uniparental Disomy
Jin-Chen C. Wang
21. Genetic Counseling
Sarah Hutchings Clark
