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Chromosome abnormalities and genetic counseling [[electronic resource] /] / R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer
Chromosome abnormalities and genetic counseling [[electronic resource] /] / R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer
Autore Gardner R. J. M
Edizione [4th ed.]
Pubbl/distr/stampa Oxford, : Oxford University Press, c2012
Descrizione fisica 1 online resource (649 p.)
Disciplina 616/.042
Altri autori (Persone) SutherlandGrant R
ShafferLisa G
Collana Oxford monographs on medical genetics
Soggetto topico Genetic counseling
Human chromosome abnormalities - Patients - Counseling of
Chromosome abnormalities
Soggetto genere / forma Electronic books.
ISBN 0-19-997517-5
1-283-42706-0
9786613427069
0-19-974915-9
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Cover; Contents; PART ONE: BASIC CONCEPTS; 1. Elements of Medical Cytogenetics; 2. Chromosome Analysis; 3. The Origins and Consequences of Chromosome Pathology; 4. Deriving and Using a Risk Figure; PART TWO: PARENT WITH A CHROMOSOMAL ABNORMALITY; 5. Autosomal Reciprocal Translocations; 6. Sex Chromosome Translocations; 7. Robertsonian Translocations; 8. Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, and Jumping Translocations; 9. Inversions; 10. Insertions; 11. Autosomal Ring Chromosomes; 12. Complex Rearrangements
13. Parental Sex Chromosome Aneuploidy14. Parental Autosomal Aneuploidy; 15. The Fragile X Syndromes; PART THREE: VARIANTS; 16. Variant Chromosomes and Abnormalities of No Phenotypic Consequence; 17. Copy Number Changes; PART FOUR: NORMAL PARENTS WITH A CHROMOSOMALLY ABNORMAL CHILD; 18. Down Syndrome, Other Full Aneuploidies, and Polyploidy; 19. Structural Rearrangements; 20. Chromosomal Disorders of Sex Development; 21. Chromosome Instability Syndromes; PART FIVE: DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING; 22. Uniparental Disomy and Disorders of Imprinting
PART SIX: REPRODUCTIVE FAILURE23. Gametogenesis and Conception, Pregnancy Loss and Infertility; PART SEVEN: PRENATAL DIAGNOSIS; 24. Parental Age Counseling and Screening for Fetal Trisomy; 25. Prenatal Diagnostic Procedures; 26. Preimplantation Genetic Diagnosis; 27. Chromosome Abnormalities Detected at Prenatal Diagnosis; PART EIGHT: NOXIOUS AGENTS; 28. Gonadal Cytogenetic Damage from Exposure to Extrinsic Agents; APPENDIXES; A. Ideograms of Human Chromosomes, and Haploid Autosomal Lengths; B. Cytogenetic Abbreviations and Nomenclature
C. Determining 95 Percent Confidence Limits, and the Standard ErrorReferences; 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
Record Nr. UNINA-9910457763203321
Gardner R. J. M  
Oxford, : Oxford University Press, c2012
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui
Chromosome abnormalities and genetic counseling [[electronic resource] /] / R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer
Chromosome abnormalities and genetic counseling [[electronic resource] /] / R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer
Autore Gardner R. J. M
Edizione [4th ed.]
Pubbl/distr/stampa Oxford, : Oxford University Press, c2012
Descrizione fisica 1 online resource (649 p.)
Disciplina 616/.042
Altri autori (Persone) SutherlandGrant R
ShafferLisa G
Collana Oxford monographs on medical genetics
Soggetto topico Genetic counseling
Human chromosome abnormalities - Patients - Counseling of
Chromosome abnormalities
ISBN 0-19-997517-5
1-283-42706-0
9786613427069
0-19-974915-9
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Cover; Contents; PART ONE: BASIC CONCEPTS; 1. Elements of Medical Cytogenetics; 2. Chromosome Analysis; 3. The Origins and Consequences of Chromosome Pathology; 4. Deriving and Using a Risk Figure; PART TWO: PARENT WITH A CHROMOSOMAL ABNORMALITY; 5. Autosomal Reciprocal Translocations; 6. Sex Chromosome Translocations; 7. Robertsonian Translocations; 8. Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, and Jumping Translocations; 9. Inversions; 10. Insertions; 11. Autosomal Ring Chromosomes; 12. Complex Rearrangements
13. Parental Sex Chromosome Aneuploidy14. Parental Autosomal Aneuploidy; 15. The Fragile X Syndromes; PART THREE: VARIANTS; 16. Variant Chromosomes and Abnormalities of No Phenotypic Consequence; 17. Copy Number Changes; PART FOUR: NORMAL PARENTS WITH A CHROMOSOMALLY ABNORMAL CHILD; 18. Down Syndrome, Other Full Aneuploidies, and Polyploidy; 19. Structural Rearrangements; 20. Chromosomal Disorders of Sex Development; 21. Chromosome Instability Syndromes; PART FIVE: DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING; 22. Uniparental Disomy and Disorders of Imprinting
PART SIX: REPRODUCTIVE FAILURE23. Gametogenesis and Conception, Pregnancy Loss and Infertility; PART SEVEN: PRENATAL DIAGNOSIS; 24. Parental Age Counseling and Screening for Fetal Trisomy; 25. Prenatal Diagnostic Procedures; 26. Preimplantation Genetic Diagnosis; 27. Chromosome Abnormalities Detected at Prenatal Diagnosis; PART EIGHT: NOXIOUS AGENTS; 28. Gonadal Cytogenetic Damage from Exposure to Extrinsic Agents; APPENDIXES; A. Ideograms of Human Chromosomes, and Haploid Autosomal Lengths; B. Cytogenetic Abbreviations and Nomenclature
C. Determining 95 Percent Confidence Limits, and the Standard ErrorReferences; 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
Record Nr. UNINA-9910781939103321
Gardner R. J. M  
Oxford, : Oxford University Press, c2012
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui
Chromosome abnormalities and genetic counseling / / R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer
Chromosome abnormalities and genetic counseling / / R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer
Autore Gardner R. J. M
Edizione [4th ed.]
Pubbl/distr/stampa Oxford, : Oxford University Press, c2012
Descrizione fisica 1 online resource (649 p.)
Disciplina 616/.042
Altri autori (Persone) SutherlandGrant R
ShafferLisa G
Collana Oxford monographs on medical genetics
Soggetto topico Genetic counseling
Human chromosome abnormalities - Patients - Counseling of
Chromosome abnormalities
ISBN 0-19-997517-5
1-283-42706-0
9786613427069
0-19-974915-9
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Cover; Contents; PART ONE: BASIC CONCEPTS; 1. Elements of Medical Cytogenetics; 2. Chromosome Analysis; 3. The Origins and Consequences of Chromosome Pathology; 4. Deriving and Using a Risk Figure; PART TWO: PARENT WITH A CHROMOSOMAL ABNORMALITY; 5. Autosomal Reciprocal Translocations; 6. Sex Chromosome Translocations; 7. Robertsonian Translocations; 8. Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, and Jumping Translocations; 9. Inversions; 10. Insertions; 11. Autosomal Ring Chromosomes; 12. Complex Rearrangements
13. Parental Sex Chromosome Aneuploidy14. Parental Autosomal Aneuploidy; 15. The Fragile X Syndromes; PART THREE: VARIANTS; 16. Variant Chromosomes and Abnormalities of No Phenotypic Consequence; 17. Copy Number Changes; PART FOUR: NORMAL PARENTS WITH A CHROMOSOMALLY ABNORMAL CHILD; 18. Down Syndrome, Other Full Aneuploidies, and Polyploidy; 19. Structural Rearrangements; 20. Chromosomal Disorders of Sex Development; 21. Chromosome Instability Syndromes; PART FIVE: DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING; 22. Uniparental Disomy and Disorders of Imprinting
PART SIX: REPRODUCTIVE FAILURE23. Gametogenesis and Conception, Pregnancy Loss and Infertility; PART SEVEN: PRENATAL DIAGNOSIS; 24. Parental Age Counseling and Screening for Fetal Trisomy; 25. Prenatal Diagnostic Procedures; 26. Preimplantation Genetic Diagnosis; 27. Chromosome Abnormalities Detected at Prenatal Diagnosis; PART EIGHT: NOXIOUS AGENTS; 28. Gonadal Cytogenetic Damage from Exposure to Extrinsic Agents; APPENDIXES; A. Ideograms of Human Chromosomes, and Haploid Autosomal Lengths; B. Cytogenetic Abbreviations and Nomenclature
C. Determining 95 Percent Confidence Limits, and the Standard ErrorReferences; 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
Record Nr. UNINA-9911088908403321
Gardner R. J. M  
Oxford, : Oxford University Press, c2012
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui
Chromosome abnormalities and genetic counseling / / R.J. McKinlay Gardner, Grant R. Sutherland
Chromosome abnormalities and genetic counseling / / R.J. McKinlay Gardner, Grant R. Sutherland
Autore Gardner R. J. M
Edizione [3rd ed.]
Pubbl/distr/stampa Oxford University Press, 2011
Descrizione fisica 1 online resource (xviii, 577 pages, 4 unnumbered pages of plates) : illustrations (some color)
Disciplina 616/.042
Altri autori (Persone) SutherlandGrant R
Collana Oxford monographs on medical genetics
Soggetto topico Genetic counseling
Human chromosome abnormalities - Patients - Counseling of
ISBN 1-280-53537-7
0-19-972524-1
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
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.
Record Nr. UNINA-9911150199403321
Gardner R. J. M
Oxford University Press, 2011
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui
Chromosome abnormalities and genetic counseling / / R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer
Chromosome abnormalities and genetic counseling / / R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer
Autore Gardner R. J. M
Edizione [4th ed.]
Pubbl/distr/stampa Oxford University Press, 2011
Descrizione fisica 1 online resource (649 p.)
Disciplina 616/.042
Altri autori (Persone) SutherlandGrant R
ShafferLisa G
Collana Oxford monographs on medical genetics
Soggetto topico Genetic counseling
Human chromosome abnormalities - Patients - Counseling of
Chromosome abnormalities
ISBN 0-19-997517-5
1-283-42706-0
9786613427069
0-19-974915-9
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Cover; Contents; PART ONE: BASIC CONCEPTS; 1. Elements of Medical Cytogenetics; 2. Chromosome Analysis; 3. The Origins and Consequences of Chromosome Pathology; 4. Deriving and Using a Risk Figure; PART TWO: PARENT WITH A CHROMOSOMAL ABNORMALITY; 5. Autosomal Reciprocal Translocations; 6. Sex Chromosome Translocations; 7. Robertsonian Translocations; 8. Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, and Jumping Translocations; 9. Inversions; 10. Insertions; 11. Autosomal Ring Chromosomes; 12. Complex Rearrangements
13. Parental Sex Chromosome Aneuploidy14. Parental Autosomal Aneuploidy; 15. The Fragile X Syndromes; PART THREE: VARIANTS; 16. Variant Chromosomes and Abnormalities of No Phenotypic Consequence; 17. Copy Number Changes; PART FOUR: NORMAL PARENTS WITH A CHROMOSOMALLY ABNORMAL CHILD; 18. Down Syndrome, Other Full Aneuploidies, and Polyploidy; 19. Structural Rearrangements; 20. Chromosomal Disorders of Sex Development; 21. Chromosome Instability Syndromes; PART FIVE: DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING; 22. Uniparental Disomy and Disorders of Imprinting
PART SIX: REPRODUCTIVE FAILURE23. Gametogenesis and Conception, Pregnancy Loss and Infertility; PART SEVEN: PRENATAL DIAGNOSIS; 24. Parental Age Counseling and Screening for Fetal Trisomy; 25. Prenatal Diagnostic Procedures; 26. Preimplantation Genetic Diagnosis; 27. Chromosome Abnormalities Detected at Prenatal Diagnosis; PART EIGHT: NOXIOUS AGENTS; 28. Gonadal Cytogenetic Damage from Exposure to Extrinsic Agents; APPENDIXES; A. Ideograms of Human Chromosomes, and Haploid Autosomal Lengths; B. Cytogenetic Abbreviations and Nomenclature
C. Determining 95 Percent Confidence Limits, and the Standard ErrorReferences; 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
Record Nr. UNINA-9911154403703321
Gardner R. J. M
Oxford University Press, 2011
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui
Chromosome abnormalities and genetic counseling [[electronic resource] /] / R.J. McKinlay Gardner, Grant R. Sutherland
Chromosome abnormalities and genetic counseling [[electronic resource] /] / R.J. McKinlay Gardner, Grant R. Sutherland
Autore Gardner R. J. M
Edizione [3rd ed.]
Pubbl/distr/stampa New York, : Oxford University Press, 2004
Descrizione fisica xviii, 577 p., [4] p. of plates : ill. (some col.)
Disciplina 616/.042
Altri autori (Persone) SutherlandGrant R
Collana Oxford monographs on medical genetics
Soggetto topico Genetic counseling
Human chromosome abnormalities - Patients - Counseling of
Soggetto genere / forma Electronic books.
ISBN 1-280-53537-7
0-19-972524-1
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Record Nr. UNINA-9910455964903321
Gardner R. J. M  
New York, : Oxford University Press, 2004
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui
Chromosome abnormalities and genetic counseling / / R.J. McKinlay Gardner, Grant R. Sutherland
Chromosome abnormalities and genetic counseling / / R.J. McKinlay Gardner, Grant R. Sutherland
Autore Gardner R. J. M
Edizione [3rd ed.]
Pubbl/distr/stampa New York : , : Oxford University Press, , 2004
Descrizione fisica 1 online resource (xviii, 577 pages, 4 unnumbered pages of plates) : illustrations (some color)
Disciplina 616/.042
Altri autori (Persone) SutherlandGrant R
Collana Oxford monographs on medical genetics
Soggetto topico Genetic counseling
Human chromosome abnormalities - Patients - Counseling of
ISBN 1-280-53537-7
0-19-972524-1
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Record Nr. UNINA-9910780613603321
Gardner R. J. M  
New York : , : Oxford University Press, , 2004
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui
Chromosome abnormalities and genetic counseling / / R.J. McKinlay Gardner, Grant R. Sutherland
Chromosome abnormalities and genetic counseling / / R.J. McKinlay Gardner, Grant R. Sutherland
Autore Gardner R. J. M
Edizione [3rd ed.]
Pubbl/distr/stampa New York, : Oxford University Press, 2004
Descrizione fisica 1 online resource (xviii, 577 pages, 4 unnumbered pages of plates) : illustrations (some color)
Disciplina 616/.042
Altri autori (Persone) SutherlandGrant R
Collana Oxford monographs on medical genetics
Soggetto topico Genetic counseling
Human chromosome abnormalities - Patients - Counseling of
ISBN 1-280-53537-7
0-19-972524-1
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
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.
Record Nr. UNINA-9911098874903321
Gardner R. J. M  
New York, : Oxford University Press, 2004
Materiale a stampa
Lo trovi qui: Univ. Federico II
Opac: Controlla la disponibilità qui