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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 | ||
| ||
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 | ||
| ||
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-9910827819003321 |
|
Gardner R. J. M
|
||
| Oxford, : Oxford University Press, c2012 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||