LEADER 04403nam 2200613 a 450 001 9910781939103321 005 20230802004323.0 010 $a0-19-997517-5 010 $a1-283-42706-0 010 $a9786613427069 010 $a0-19-974915-9 035 $a(CKB)2550000000075782 035 $a(EBL)829366 035 $a(OCoLC)769344040 035 $a(StDuBDS)EDZ0000105148 035 $a(MiAaPQ)EBC829366 035 $a(Au-PeEL)EBL829366 035 $a(CaPaEBR)ebr10521092 035 $a(CaONFJC)MIL342706 035 $a(EXLCZ)992550000000075782 100 $a20110202d2012 uy 0 101 0 $aeng 135 $aur|n|---||||| 200 10$aChromosome abnormalities and genetic counseling$b[electronic resource] /$fR.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer 205 $a4th ed. 210 $aOxford $cOxford University Press$dc2012 215 $a1 online resource (649 p.) 225 1 $aOxford monographs on medical genetics ;$vno. 61 300 $aDescription based upon print version of record. 311 $a0-19-537533-5 320 $aIncludes bibliographical references and index. 327 $aCover; 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 327 $a13. 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 327 $aPART 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 327 $aC. 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 330 $aChromosome abnormalities have been known for over 50 years, though the methods of analysis have become increasing more sophisticated and precise. Surprisingly, the questions that parents and families raise in genetic counseling have changed little over that period. Questions like, ""Why did an abnormality happen? Why did it cause the problems we see in our child? Would it happen again in a future child? How could we avoid it happening again?"" are common concerns for families. This new edition of Chromosome Abnormalities and Genetic Counseling deals with these universal questions, and in the c 410 0$aOxford monographs on medical genetics ;$vno. 61. 606 $aGenetic counseling 606 $aHuman chromosome abnormalities$xPatients$xCounseling of 606 $aChromosome abnormalities 615 0$aGenetic counseling. 615 0$aHuman chromosome abnormalities$xPatients$xCounseling of. 615 0$aChromosome abnormalities. 676 $a616/.042 700 $aGardner$b R. J. M$01469615 701 $aSutherland$b Grant R$0516861 701 $aShaffer$b Lisa G$01498669 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910781939103321 996 $aChromosome abnormalities and genetic counseling$93724304 997 $aUNINA