04102nam 22006494a 450 991081507800332120200520144314.01-280-53537-70-19-972524-1(CKB)2460000000005974(SSID)ssj0000581039(PQKBManifestationID)11386354(PQKBTitleCode)TC0000581039(PQKBWorkID)10526330(PQKB)10078659(SSID)ssj0000291567(PQKBManifestationID)12131858(PQKBTitleCode)TC0000291567(PQKBWorkID)10249609(PQKB)10944895(MiAaPQ)EBC3053657(Au-PeEL)EBL3053657(CaPaEBR)ebr10375191(CaONFJC)MIL53537(OCoLC)855715983(EXLCZ)99246000000000597420021209d2004 uy 0engurcn|||||||||txtrdacontentcrdamediacrrdacarrierChromosome abnormalities and genetic counseling /R.J. McKinlay Gardner, Grant R. Sutherland3rd ed.New York Oxford University Press20041 online resource (xviii, 577 pages, 4 unnumbered pages of plates) illustrations (some color)Oxford monographs on medical genetics ;no. 46Bibliographic Level Mode of Issuance: Monograph0-19-514960-2 Includes bibliographical references (p. 457-555) and index.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.Written for genetic counselors and cytogenetic laboratory workers, this book presents the theoretical basis of clinical cytogenetics.Oxford monographs on medical genetics ;no. 46.Genetic counselingHuman chromosome abnormalitiesPatientsCounseling ofGenetic counseling.Human chromosome abnormalitiesPatientsCounseling of.616/.042Gardner R. J. M1594742Sutherland Grant R516861MiAaPQMiAaPQMiAaPQBOOK9910815078003321Chromosome abnormalities and genetic counseling3925061UNINA