The chromosomal finding was triploidy 69,XXY. Triploidy occurs when a fetus has three full sets of chromosomes instead of the normal two and results in lethality during prenatal development. Numerical chromosomal abnormalities include polyploidy, aneuploidy, and nullisomy/disomy in gametes which can cause conditions like Down syndrome (trisomy 21), Patau syndrome (trisomy 13), Edwards syndrome (trisomy 18), Turner syndrome (monosomy X), and Klinefelter syndrome (47,XXY).

1. Practical 6 Numerical chromosomal abnormalities

4. Triploidy 69,XXY Lethal during prenatal development.

5. Partial hydatidiform mol e Mass of trophoblastic tissue

6. Mosaic form of triploidy 69,XXY/46,XY 69,XXX/46,XX

8. Normal karyotype Triploidy Trisomy Monosomy Aneuploidy Polyploidy

10. Trisomy 21 47,XX,+21

11. 47,XY,+21

12. Down syndrome 47,XX,+21 47,XY,+21

13. Down syndrome

14. Down syndrome Epicanthic fold Palm or „simian“ crease

15. Phenotypic features of the Down syndrome

16. Trisomy 21 in the fetus

19. Karyotype 2

20. Trisomy of chromosome 13 47,XX,+13

21. Patau syndrome

22. Patau syndrome polydactyly

23. Patau syndrome – cyclopia

24. Karyotype 3

25. Trisomy of chromosome 18 47,XY,+18

26. Edwards syndrome Trisomy 18

27. Edwards syndrome

28. Edwards syndrome „ rocker bottom feet“

29. A fetus with trisomy 18

30. Fetus with trisomy 18

31. Karyotype 4

32. Monosomy of chromosome X 45,X

33. Turner syndrome (Ulrich-Turner syndrome)

34. Turner syndrome – streak gonads

35. Phenotypic features of the Turner syndrome

38. Karyotype 5

39. 47,XXY

40. Klinefelter syndrome

41. Phenotypic features of the Klinefelter syndrome

42. Klinefelter syndrome phenotype

43. Karyotype 6

44. Superfemale – 47,XXX

45. Karyotype 7

46. Supermale – 47,XYY

47. Barr body examination Epithelial cells from the buccal smear

50. Happy Easter! Feliz Páscoa! Frohe Ostern! Radostné Velikonoce! Prospera Pascha sit !