1. What is a mutation? Changes in the genetic material (DNA). A feature of DNA.

2. Mutations can occur in two different types of cells: 1. Somatic (body) cells 2. Gamete (sex) cells

3. Mutations that occur in somatic (body) cells usually result in killing that body cell only. An exception to this is if the mutation occurs to the DNA that controls regulation of the cell cycle. This can result in cancer.

4. Somatic mutations usually do NOT affect future individuals. Somatic mutations can NOT be passed on to the next generation.

5. Mutations that occur in gamete (sex) cells means that every cell of the developing fetus/baby will have that mutation.

6. Gamete mutations usually do affect the individual with some genetic disorder. Gamete mutations can be passed on to the next generation.

7. There are two types of mutations that can occur in gamete cells: 1. Gene Mutations 2. Chromosomal Mutations

8. CHROMOSOMAL MUTATIONS Multiple congenital anomalies (deformities) Occur during pregnancy, present at delivery Usually not inherited

9. 5 types of Chromosomal Mutations: 1.Deletion 2. Duplication 3.Inversion 4.Translocation 5.Non-disjunction

10. Deletion Involves the loss of part of a chromosome.

12. Interstitial Deletion

13. Deletion TWO TYPES OF DELETIONS: End missing (terminal) Piece within chromosome missing (interstitial) Terminal deletion of p 5 Cri du Chat Syndrome = Cry of the Cat

14. “Happy puppet syndrome” Low IQ Abnormal gait Inappropriately happy Maternal 15q11-13

15. Deletion of Paternal 15q11-13

17. Duplication Involves the production of extra copies of parts of the chromosome.

18. Duplication

19. 4 copies of the top of chromosome 22 Mental retardation in all babies

20. Over sized babies Over sized organs Too much mitosis! Insulin-like growth factor not turned off because two paternal alleles for chromosome 11p

21. Inversion Reverses the direction of parts of a chromosome.

22. Inversion Around the centromere Above or below the centromere

23. Inversion

24. Also an inversion

25. Translocation When one part of a nonhomologous chromosome breaks off and attaches to another chromosome.

26. Translocation

27. A Robertsonian translocation

28. All essential genetic material is present so the children appear normal

30. Most common birth defects with unbalanced translocations of 11 and 22 are cleft palate, heart defects, ear anomalies, and male genital defects.

31. Point Mutations This type of mutation takes place when 1 or more bases is changed for another base on the strand of DNA. This changes what protein is produced and could change how something functions.

32. Errors in Chromosomal Separation

33. Non-disjunction Means “not coming apart”. When homologous chromosomes fail to separate properly during anaphase 1 of meiosis.

35. Results in abnormal numbers of chromosomes. Trisomy means a person has an extra copy of a chromosome. Monosomy means a person is missing a copy of a chromosome.

36. Normal female

37. Normal male

38. Trisomy means a person has an extra copy of a chromosome

39. 3 of chromosome 21

40. Non-disjuction: Trisomy Chromosome 18 does not separate properly during meiosis. This gives the child three parts of chromosome 18. Also called Trisomy 18 Edward’s Syndrome

41. 1/3000 births Mental Retardation Failure to thrive Heart defect Overlapping fingers Low set, fawn-like ears

43. three of chromosome 13 present

45. These individuals are males. Little body hair is present. Typically tall. Some development of breast tissue normally seen in females. May or may not have evidence of mental retardation.

46. Monosomy means a person is missing a copy of a chromosome.

48. These individuals are female Underdeveloped ovaries Individuals are sterile and lack expected secondary sexual characteristics Short stature, webbed/bull neck, broad chest Mental retardation typically not evident.

49. Turner’s Syndrome Baby Only one X chromosome present Turner’s Syndrome age 12

50. Karyotyping Fluorescent (FISH)