1. What do you notice most about this baby?

2. Human Genetic Chromosomal Mutations

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

4. Intro to a Human Karyotype

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

6. Normal Male and Female Karyotypes
In a human karyotype, the first 22 pairs of chromosomes are the autosomes. The 23rd pair of chromosomes are the sex chromosomes

7. 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

8. 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

9. Types of Genetic Disorders
Chromosomal
abnormalities in chromosome structure as missing or extra copies or gross breaks and rejoining (i.e.deletions, duplications, inversions, translocation)
Down Syndrome

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

11. Think-Pair-Share Do you know anyone with a genetic disorder?
If yes, What do they have?
Is the person male or female?

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

28. Down Syndrome Trisomy 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

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

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

31. 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

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

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

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

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

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

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

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

39. Triple X Syndrome Normally physically Fertile
Mentally: behavioral and emotional
difficulties are possible