1. Genetic Mutations

2. Remember! XX = Female XY = Male Normal # of Chromosomes in Humans = 46 (2 Sex Chromosomes and 44 Body Chromosomes)

3. Mutations … are changes in the genetic material can be good or bad can be on a single gene or the whole chromosome

4. What is a karyotype? Picture of your chromosomes Arranged from largest to smallest quickly identify chromosomal changes

5. Monomy = When you only have 1 of the 2 chromosomes Trisomy = When you have 3 of a chromosomes instead of the usual 2. Down’s Syndrome = Trisomy 21 / when a person has three copies of chromosome number one

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9. 4 Types of Genetic Disorders Single gene –Change in the DNA sequence –More than 6000 known disorders –Autosomal or sex linked –1 in 200 births –cystic fibrosis, sickle cell anemia, Marfan syndrome, Huntington’s disease

10. Types of Genetic Disorders Multifactoral –combination of environmental factors and mutations in multiple genes –more complicated –heart disease, high blood pressure, Alzheimer’s disease, arthritis, diabetes, cancer, and obesity

11. Types of Genetic Disorders Chromosomal –abnormalities in chromosome structure as missing or extra copies or gross breaks and rejoining –Down Syndrome

12. Types of Genetic Disorders Mitochondrial –rare type of genetic disorder –caused by mutations in the non-chromosomal DNA of mitochondria –Current Event…

13. Do you know anyone with a genetic disorder? What do they have? If yes, is it male or female? Think-Pair-Share

14. Turners Syndrome 1 in 5,000 births 45 chromosomes One X only #23 Monosomy Nondisjunction

15. Turners Syndrome 96-98% do not survive to birth No menstruation No breast development No hips Broad shoulders and neck

16. Cri-Du-Chat Syndrome 1 in 216,000 births 46 chromosomes XY or XX #5 Deletion of lower arm

17. Cri-Du-Chat Syndrome Moon-shaped face Heart disease Mentally retarded Malformed larynx Normal lifespan

18. Aniridia-Wilms Tumor Syndrome 1 in 50,000,000 births 46 chromosomes XY or XX #11 Deletion of upper arm

19. Aniridia-Wilms Tumor Syndrome Mentally retarded Growth retarded Blindness Tumors on kidneys Short lifespan

20. Thirteen Q Deletion Syndrome 1 in 500,000 births 46 chromosomes XY or XX #13 Deletion of lower arm

21. Thirteen Q Deletion Syndrome Mentally retarded Deformed face No thumbs Heart disease Short lifespan

22. Prader-Willi Syndrome 1 in 5,000,000 births 46 chromosomes XY=97% XX=3% #15 Deletion of lower arm

23. Prader-Willi Syndrome Small bird-like head Mentally retarded Respiratory problems Obesity Short lifespan

24. Eighteen Q Deletion Syndrome 1 in 10,000,000 births 46 chromosomes XY or XX #18 Deletion of lower arm

25. Eighteen Q Deletion Syndrome Mentally retarded Heart disease Abnormal hands and feet Large eyes Large ears Normal lifespan

26. Cat-Eye Syndrome 1 in 1,000,000 births 46 chromosomes XY or XX #22 Deletion of bottom arm

27. Cat-Eye Syndrome Fused fingers and toes Mentally retarded Small jaw Heart problems Normal lifespan

28. Four-Ring Syndrome 1 in 10,000,000 births 46 chromosomes XY or XX #4 Inversion

29. Four-Ring Syndrome Cleft palate Club feet Testes don’t descend Short lifespan

30. Down Syndrome 1 in 31,000 births 46 chromosomes XY=97% XX=3% #14/21 Translocation 1 in 1,250 births 47 chromosomes XY or XX #21 Trisomy Nondisjunction Down Syndrome Trisomy

31. Down Syndrome Short, broad hands Stubby fingers Rough skin Impotency in males Mentally retarded Small round face Protruding tongue Short lifespan

32. Patau’s Trisomy Syndrome 1 in 14,000 births 47 chromosomes XY or XX #13 Trisomy Nondisjunction

33. Patau’s Trisomy Syndrome Small head Small or missing eyes Heart defects Extra fingers Abnormal genitalia Mentally retarded Cleft palate Most die a few weeks after birth

34. Edward’s Trisomy Syndrome 1 in 4,400 births 47 chromosomes XX=80% XY=20% #18 Trisomy Nondisjunction

35. Edward’s Trisomy Syndrome Small head Mentally retarded Internal organ abnormalities 90% die before 5 months of age

36. Jacob’s Syndrome 1 in 1,800 births 47 chromosomes XYY only #23 Trisomy Nondisjunction

37. Jacob’s Syndrome Normal physically Normal mentally Increase in testosterone More aggressive Normal lifespan ?

38. Klinefelter Syndrome 1 in 1,100 births 47 chromosomes XXY only #23 Trisomy Nondisjunction

39. Klinefelter Syndrome Scarce beard Longer fingers and arms Sterile Delicate skin Low mental ability Normal lifespan

40. Klinefelter Syndrome

41. Triple X Syndrome 1 in 2,500 births 47 chromosomes XXX only #23 Trisomy Nondisjunction

42. Triple X Syndrome Normally physically Normal mentally Fertile