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OverviewEven 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 counsellors 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. Full Product DetailsAuthor: R.J. McKinlay Gardner (Adjunct Professor, Clinical Genetics Group, University of Otago) , David J. Amor (Lorenzo and Pamela Galli Chair, University of Melbourne, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital)Publisher: Oxford University Press Inc Imprint: Oxford University Press Inc Edition: 5th Revised edition Dimensions: Width: 18.30cm , Height: 3.60cm , Length: 25.80cm Weight: 1.632kg ISBN: 9780199329007ISBN 10: 0199329001 Pages: 728 Publication Date: 20 March 2018 Audience: Professional and scholarly , Professional & Vocational Format: Hardback Publisher's Status: Active Availability: In stock  We have confirmation that this item is in stock with the supplier. It will be ordered in for you and dispatched immediately. Table of ContentsPrefaceAcknowledgmentsPART ONE: BASIC CONCEPTS1. Elements of Medical Cytogenetics2. Chromosome Analysis3. The Origins and Consequences of Chromosome Pathology4. Deriving and Using a Risk FigurePART TWO: PARENT WITH A CHROMOSOMAL ABNORMALITY5. Autosomal Reciprocal Translocations6. Sex Chromosome Translocations7. Robertsonian Translocations8. Insertions9. Inversions10. Complex Chromosomal Rearrangements11. Autosomal Ring Chromosomes12. Rare Conditions: Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, Neocentromeres, Jumping Translocations, and Chromothripsis13. Down Syndrome, Other Full Aneuploidies, Polyploidy, and the Influence of Parental Age14. Autosomal Structural Rearrangements: Deletions and Duplications15. Sex Chromosome Aneuploidy and Structural Rearrangement16. Chromosome Instability SyndromesPART THREE: CHROMOSOME VARIANTS17. Normal Chromosomal VariationPART FOUR: DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING18. Uniparental Disomy and Disorders of ImprintingPART FIVE: REPRODUCTIVE CTYOGENETICS19. Reproductive Failure20. Prenatal Testing Procedures21. Chromosome Abnormalities Detected at Prenatal Diagnosis22. Preimplantation Genetic DiagnosisPART SIX: DISORDERS OF SEX DEVELOPMENT23. Chromosomal Disorders of Sex DevelopmentPART SEVEN: NOXIOUS AGENTS24. Gonadal Cytogenetic Damage from Exposure to Extrinsic AgentsAPPENDICESA. Ideograms of Human Chromosomes and Haploid Autosomal LengthsB. Cytogenetic Abbreviations and NomenclatureC. Determining 95 Percent Confidence Limits and the Standard ErrorReferencesIndexReviewsAn essential resource. A compulsory text for cytogeneticists, geneticists, and genetic counselors in training, and highly suitable for as a reference for other health professionals who encounter patients and families with chromosome abnormalities. --BMJ An essential resource. A compulsory text for cytogeneticists, geneticists, and genetic counselors in training, and highly suitable for as a reference for other health professionals who encounter patients and families with chromosome abnormalities. * BMJ * Author InformationR.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. Tab Content 6Author Website:Countries AvailableAll regions |
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