Chromosome abnormalities and genetic counseling [[electronic resource] /] / R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer

• Autore: Gardner R. J. M
• Pubblicazione: Oxford, : Oxford University Press, c2012
• Edizione: 4th ed.
• Descrizione fisica: 1 online resource (649 p.)
• Disciplina: 616/.042
• Soggetto topico: Genetic counseling; Human chromosome abnormalities - Patients - Counseling of; Chromosome abnormalities
• Altri autori: SutherlandGrant R ShafferLisa G
• Note generali: Description based upon print version of record.
• Nota di bibliografia: Includes bibliographical references and index.
• 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
• Sommario/riassunto: Chromosome abnormalities have been known for over 50 years, though the methods of analysis have become increasing more sophisticated and precise. Surprisingly, the questions that parents and families raise in genetic counseling have changed little over that period. Questions like, ""Why did an abnormality happen? Why did it cause the problems we see in our child? Would it happen again in a future child? How could we avoid it happening again?"" are common concerns for families. This new edition of Chromosome Abnormalities and Genetic Counseling deals with these universal questions, and in the c
• Titolo autorizzato: Chromosome abnormalities and genetic counseling
• ISBN: 0-19-997517-5; 1-283-42706-0; 9786613427069; 0-19-974915-9
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Lingua di pubblicazione: Inglese
• Record Nr.: 9910781939103321
• Lo trovi qui: Univ. Federico II
• Serie: Oxford monographs on medical genetics ; ; no. 61.