1. DEVELOPMENTAL & GENETIC DISEASE

2. Teratogens -Factors that cause developmental disease -3 known types Physical Chemical Microbial

3. Physical Teratogens

4. Chemical Teratogens

5. Microbial Teratogens Two types: – Direct: infects mother – Indirect: infects fetus. (TORCH syndrome)

6. Chromosomal Abnormalities

7. Structural Abnormalities TypeSymbolNature Translocationt Two chromosomes break, rejoin, and exchange segments DeletiondelA segment of chromosome is lost Inversioninv Two breaks occur; the middle piece is rotated and re-joins Fragile sitefraA chromosomal site with a tendency to break Heterochromic site h Chromosomal region that stains differently from the rest, often of variable size in the normal population DuplicationdupDuplication of a segment of chromosome Ringr Arises from breaks in both arms, with loss of both ends to form a ring

8. Karyotype Nomenclature 46,XY, t(9;22)(q34;q11) Total number of chromosomes Sex chromosome constitution Description of abnormalities

9. Deletions

10. Translocations

11. Numerical Abnormalities

12. Numerical Abnormalities of Autosomes

13. Numerical Abnormalities of Sex Chromosomes

14. Autosomal Dominant Disorders

15. Autosomal Recessive Disorders

16. Sex linked Recessive Disorders

17. Sex linked Dominant Disorders

18. Multiple triple repeats disorders

19. Prenatal Diagnosis