Chromosome Abnormalities and Genetic Counseling.
Gardner, R. J. McKinlay.
Chromosome Abnormalities and Genetic Counseling. - 3rd ed. - 1 online resource (596 pages) - Oxford Monographs on Medical Genetics ; v.46 . - Oxford Monographs on Medical Genetics .
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.
9780199725243
Genetic counseling.
Human chromosome abnormalities -- Patients -- Counseling of.
Electronic books.
RB155.7 -- .G37 2004eb
616/.042
Chromosome Abnormalities and Genetic Counseling. - 3rd ed. - 1 online resource (596 pages) - Oxford Monographs on Medical Genetics ; v.46 . - Oxford Monographs on Medical Genetics .
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.
9780199725243
Genetic counseling.
Human chromosome abnormalities -- Patients -- Counseling of.
Electronic books.
RB155.7 -- .G37 2004eb
616/.042