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Chromosome Abnormalities & Genetic Counseling

by Gardner, R. J. M. A Sutherland, G. R.

  • ISBN: 9780195106152
  • ISBN10: 0195106156

Chromosome Abnormalities & Genetic Counseling

by Gardner, R. J. M. A Sutherland, G. R.

  • List Price: $65.00
  • Binding: Hardcover
  • Edition: 2
  • Publisher: Oxford University Press
  • Publish date: 01/01/1996
  • ISBN: 9780195106152
  • ISBN10: 0195106156
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Description: BASIC CONCEPTS1. Elements of medical cytogenetics2. The origins and consequences of chromosome pathology3. Deriving and using a risk figurePARENT WITH A CHROMOSOMAL ABNORMALITY4. Autosomal reciprocal translocations5. Sex chromosome translocations6. Robertsonian translocations7. Centromere fissions8. Inversions9. Insertions10. Autosomal rings11. Complex rearrangements12. Parental sex chromosome aneuploidy13. Parental autosomal aneuploidy14. The fragile X syndrome15. Variant chromosomesNORMAL PARENTS WITH A CHROMOSOMALLY ABNORMAL CHILD16. Down syndrome and other full aneuploidy, and polyploidy17. Structural rearrangements and uniparental disomy18. The XY female, the XX male, and the true hermaphrodite19. Chromosome instability syndromesREPRODUCTIVE FAILURE20. Pregnancy loss and infertilityPRENATAL DIAGNOSIS21. Parental age counseling and screening for fetal trisomy22. Prenatal diagnostic procedures23. Chromosome abnormalities detected at prenatal diagnosisAPPENDIXESA. Cytogenetic abbreviations and nomenclatureB. Ideograms of human chromosomes and haploid autosomal lengthsC. Determining 95 percent confidence limits, and the standard errorREFERENCESINDEX
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