4. Gene/Chromosome Maps

5. Formation of sperm & egg

6. Three Types  Single gene  Cystic fibrosis  PKU  Chromosomal  Down Syndrome  Mult-factors  Alzheimers Disease

7. Down Syndrome Trisomy 21

8. Characteristics  Almond shaped eyes with upward slant  Short stature  Intellectual disability  Low muscle tone  Heart defects

9. Normal Fertilization

10. Trisomy 21

11. Trisomy 21 - Mosaic

12. Trisomy 21

14. Cri du chat Cause: Dislocation of CH 5 or missing part

15. Cri du chat

16. Characteristics 1 in 20k – 50k Intellectual disability High-pitched cry Microcephaly Low birth weight Hypotonia Wide set eyes & small jaw

17. Cri du chat

18. Williams Syndrome Cause: Deletion of 26 genes on CH 7 Incidence: 1 in 10,000

19. Williams Syndrome 1.Cheerful demeanor 2.ID 3.Heart defects 4.Small upturned nose 5.Wide mouth & full lips 6.Small chin 7.Feeding problems

20. Williams Syndrome

21. Klinefelter Syndrome Cause: XXY Incidence: 1 in 500-1k newborn males

22. Klinefelter Syndrome

24. 1.Sparse body hair 2.Enlarged breasts 3.Wide hips 4.Small genitalia 5.Language and learning issues