4. Normaal mannelijk, 46,XY

5. Normaal vrouwelijk karyotype 46,XX

6. 2 chromatiden 1 chromatide : dubbelstrengige DNA molecule

9. * * * X Y X X X-GEBONDEN OVERERVING

12. X-gebonden recessief overervingspatroon

17. Fragiel-X syndroom

22. Hoe herken je ze?

26. Hoe herken je de meisjes?

30. Luik : Gedragsfenotype bij fragiele X syndroom

44. Familiale anamnese Is er iets in de familie?

45. Slaat het een generatie over?

48. Category CGG repeats Methylation of FMR1 Female Male Stable 6 to ~45 Unmethylated Not affected Not affected Gray zone ~45 to ~55 Unmethylated Not affected Not affected Premutation ~55 to ~200 Unmethylated Usually not affected Usually not affected Full mutation >200 Completely methylated ~50% affected All affected

51. FXTAS

54. Risks to Offspring for Fragle X Syndrome Based on Maternal Premutation Size Number of Maternal Premutation CGG Repeats Approximate % Risk that a Son Will be Affected with Fragile X Syndrome Approximate % Risk that a Daughter Will be Affected with Fragile X Syndrome 1 56-59 7% 3.5% 60-69 10% 5% 70-79 29% 15% 80-89 36% 18% 90-99 47% 24% >100 50% 25%