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Autore: |
Gardner R. J. M
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Titolo: |
Chromosome abnormalities and genetic counseling / / R.J. McKinlay Gardner, Grant R. Sutherland
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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
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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 |
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