04403nam 2200613 a 450 991078193910332120230802004323.00-19-997517-51-283-42706-097866134270690-19-974915-9(CKB)2550000000075782(EBL)829366(OCoLC)769344040(StDuBDS)EDZ0000105148(MiAaPQ)EBC829366(Au-PeEL)EBL829366(CaPaEBR)ebr10521092(CaONFJC)MIL342706(EXLCZ)99255000000007578220110202d2012 uy 0engur|n|---|||||Chromosome abnormalities and genetic counseling[electronic resource] /R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer4th ed.Oxford Oxford University Pressc20121 online resource (649 p.)Oxford monographs on medical genetics ;no. 61Description based upon print version of record.0-19-537533-5 Includes bibliographical references and index.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 Rearrangements13. 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 ImprintingPART 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 NomenclatureC. 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; ZChromosome 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 cOxford monographs on medical genetics ;no. 61.Genetic counselingHuman chromosome abnormalitiesPatientsCounseling ofChromosome abnormalitiesGenetic counseling.Human chromosome abnormalitiesPatientsCounseling of.Chromosome abnormalities.616/.042Gardner R. J. M1469615Sutherland Grant R516861Shaffer Lisa G1498669MiAaPQMiAaPQMiAaPQBOOK9910781939103321Chromosome abnormalities and genetic counseling3724304UNINA