Chromosome abnormalities and genetic counseling / / R.J. McKinlay Gardner, Grant R. Sutherland

• Autore: Gardner R. J. M
• Pubblicazione: New York, : Oxford University Press, 2004
• Edizione: 3rd ed.
• Descrizione fisica: 1 online resource (xviii, 577 pages, 4 unnumbered pages of plates) : illustrations (some color)
• Disciplina: 616/.042
• Soggetto topico: Genetic counseling; Human chromosome abnormalities - Patients - Counseling of
• Altri autori: SutherlandGrant R
• Note generali: Bibliographic Level Mode of Issuance: Monograph
• Nota di bibliografia: Includes bibliographical references (p. 457-555) and index.
• Nota di contenuto: Intro -- Contents -- BASIC CONCEPTS -- 1. Elements of medical cytogenetics -- 2. The origins and consequences of chromosome pathology -- 3. Deriving and using a risk figure -- PARENT WITH A CHROMOSOMAL ABNORMALITY -- 4. Autosomal reciprocal translocations -- 5. Sex chromosome translocations -- 6. Robertsonian translocations -- 7. Centromere fissions, complementary isochromosomes, and telomeric fusions -- 8. Inversions -- 9. Insertions -- 10. Autosomal ring chromosomes -- 11. Complex rearrangements -- 12. Parental sex chromosome aneuploidy, -- 13. Parental autosomal aneuploidy -- 14. The fragile X syndromes -- 15. Variant chromosomes and abnormalities of no phenotypic consequence -- NORMAL PARENTS WITH A CHROMOSOMALLY ABNORMAL CHILD -- 16. Down syndrome, other full aneuploidies, and polyploidy -- 17. Structural rearrangements -- 18. The XY female, the XX male, and the true hermaphrodite -- 19. Chromosome instability syndromes -- DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING -- 20. Uniparental disomy and disorders of imprinting -- REPRODUCTIVE FAILURE -- 21. Gametogenesis and conception, pregnancy loss, and infertility -- PRENATAL DIAGNOSIS -- 22. Parental age counseling and screening for fetal trisomy -- 23. Prenatal diagnostic procedures -- 24. Preimplantation genetic diagnosis -- 25. Chromosome abnormalities detected at prenatal diagnosis -- NOXIOUS AGENTS -- 26. Gonadal cytogenetic damage from exposure to extrinsic agents -- APPENDICES -- A. Ideograms of human chromosomes and haploid autosomal lengths -- B. Cytogenetic abbreviations and nomenclature -- C. Determining 95 percent confidence limits and the standard error -- References -- Index -- A -- B -- C -- D -- E -- F -- G -- H -- I -- J -- K -- L -- M -- N -- O -- P -- Q -- R -- S -- T -- U -- V -- W -- X -- Y -- Z.
• Sommario/riassunto: Written for genetic counselors and cytogenetic laboratory workers, this book presents the theoretical basis of clinical cytogenetics.
• Titolo autorizzato: Chromosome abnormalities and genetic counseling
• ISBN: 1-280-53537-7; 0-19-972524-1
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Lingua di pubblicazione: Inglese
• Record Nr.: 9910815078003321
• Lo trovi qui: Univ. Federico II
• Serie: Oxford monographs on medical genetics ; ; no. 46.