1. Genetic Disorders

2. XO Missing X chromosome # of chromosomes = 45
Turner Syndrome XO
Missing X chromosome
# of chromosomes = 45

3. Turner Syndrome Female in appearance Infertility
Short with broad chest
Prominent ears, webbed neck
Heart defects, kidney abnormalities
1: births

4. XXY Males with an extra X # of chromosomes = 47
Klinefelter Syndrome
XXY
Males with an extra X
# of chromosomes = 47

5. Klinefelter Syndrome Have male sex organs, but are sterile
Feminine characteristics
Some breast development
Lack of facial hair
Tall
Normal intelligence
1: births

6. XYY Males with extra Y # of chromosomes = 47
Jacob’s Syndrome
XYY
Males with extra Y
# of chromosomes = 47

7. Jacob’s Syndrome more active normal intelligence, slight disabilities
slightly taller than average
more active
normal intelligence,
slight disabilities
delayed emotional maturity
normal sexual development
1: 1000 male births

8. Chromosome 21 is the smallest human but still
Down Syndrome
Trisomy 21
3 copies of chromosome 21
Chromosome 21 is the smallest human but still
causes severe effects

9. Down Syndrome Mental and physical challenges
 * Round full face, larger forehead
  Thick tongue ,speech problems
  Short, stocky, big neck
  Frequency of Down
women over 20’ - 1:1000
women over 40’ – 1:40

10. Edward’s Syndrome Trisonomy 3 copies of chromosome #18
# of chromosomes = 47
many defective organ systems
  life expectancy less than a month
1: birth

11. Edward’s Syndrome

12. Genetic Testing sample of embryo cells stain & photograph chromosomes
Amniocentesis in 2nd trimester
sample of embryo cells
stain & photograph chromosomes
Analysis of karyotype