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Practical 6 07

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Practical 6 07

  1. 1. Practical 6 Numerical chromosomal abnormalities
  2. 2. Task A <ul><li>A fetus with multiple malformations including syndactyly had been cytogenetically examined </li></ul><ul><li>Determine and describe the chromosomal finding. </li></ul>
  3. 4. Triploidy 69,XXY Lethal during prenatal development.
  4. 5. Partial hydatidiform mol e Mass of trophoblastic tissue
  5. 6. Mosaic form of triploidy 69,XXY/46,XY 69,XXX/46,XX
  6. 7. Numerical chromosomal abnormalities <ul><li>Polyploidy </li></ul><ul><ul><li>Triploidy 3n </li></ul></ul><ul><ul><li>Tetraploidy 4n </li></ul></ul><ul><li>Aneuploidy </li></ul><ul><ul><li>in somatic cells </li></ul></ul><ul><ul><ul><li>Trisomy 2n+1 </li></ul></ul></ul><ul><ul><ul><li>Monosomy 2n – 1 </li></ul></ul></ul><ul><ul><ul><li>Tetrasomy 2n + 2 </li></ul></ul></ul><ul><ul><li>in gametes </li></ul></ul><ul><ul><ul><li>Nullisomy n – 1 </li></ul></ul></ul><ul><ul><ul><li>Disomy n + 1 </li></ul></ul></ul>
  7. 8. Normal karyotype Triploidy Trisomy Monosomy Aneuploidy Polyploidy
  8. 9. Task 1 <ul><li>Determine the chromosomal finding. </li></ul><ul><li>Karyotype 1 </li></ul>
  9. 10. Trisomy 21 47,XX,+21
  10. 11. 47,XY,+21
  11. 12. Down syndrome 47,XX,+21 47,XY,+21
  12. 13. Down syndrome
  13. 14. Down syndrome Epicanthic fold Palm or „simian“ crease
  14. 15. Phenotypic features of the Down syndrome
  15. 16. Trisomy 21 in the fetus
  16. 17. Cause of chromosomal aneuploidies – non-disjunction <ul><li>Meiotic </li></ul><ul><li>Mitotic </li></ul>leads to mosaic
  17. 18. Task 3 <ul><li>Determine following karyotypes and describe corresponding phenotypic features </li></ul><ul><li>See karyotypes 2, 3, 4, 5, 6, 7 </li></ul>
  18. 19. Karyotype 2
  19. 20. Trisomy of chromosome 13 47,XX,+13
  20. 21. Patau syndrome
  21. 22. Patau syndrome polydactyly
  22. 23. Patau syndrome – cyclopia
  23. 24. Karyotype 3
  24. 25. Trisomy of chromosome 18 47,XY,+18
  25. 26. Edwards syndrome Trisomy 18
  26. 27. Edwards syndrome
  27. 28. Edwards syndrome „ rocker bottom feet“
  28. 29. A fetus with trisomy 18
  29. 30. Fetus with trisomy 18
  30. 31. Karyotype 4
  31. 32. Monosomy of chromosome X 45,X
  32. 33. Turner syndrome (Ulrich-Turner syndrome)
  33. 34. Turner syndrome – streak gonads
  34. 35. Phenotypic features of the Turner syndrome
  35. 36. Monosomy X in the fetus <ul><li>Very frequent abnormality in miscarriages </li></ul><ul><li>It is possible that full monosomy is lethal during prenatal development </li></ul><ul><li>Only mosaic forms can survive? </li></ul>
  36. 37. Description of the mosaic form of the Turner syndrome <ul><li>45,X [40] / 46,XX [35] </li></ul><ul><li>40 + 35 = 75 cells had been examined </li></ul><ul><li>In 40 cells monosomy X was identified. </li></ul><ul><li>35 cells had normal karyotype. </li></ul>
  37. 38. Karyotype 5
  38. 39. 47,XXY
  39. 40. Klinefelter syndrome
  40. 41. Phenotypic features of the Klinefelter syndrome
  41. 42. Klinefelter syndrome phenotype
  42. 43. Karyotype 6
  43. 44. Superfemale – 47,XXX
  44. 45. Karyotype 7
  45. 46. Supermale – 47,XYY
  46. 47. Barr body examination Epithelial cells from the buccal smear
  47. 48. Barr body <ul><li>= sex-chromatin </li></ul><ul><li>Inactivated X chromosome </li></ul><ul><li>Female XX </li></ul><ul><ul><li>1 Barr body </li></ul></ul><ul><li>Male XY </li></ul><ul><ul><li>no Barr hody </li></ul></ul><ul><li>Klinefelter syndrome XXY </li></ul><ul><ul><li>1 Barr body </li></ul></ul>Murray L. Barr
  48. 49. Task 4 <ul><li>Estimate possible constitution of sex chromosomes in an individual with two Barr bodies. </li></ul>Possible chromosomal findings: Superfemale – 47,XXX Rare form of the Klinefelter syndrome – 48,XXXY
  49. 50. Happy Easter! Feliz Páscoa! Frohe Ostern! Radostné Velikonoce! Prospera Pascha sit !

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