1. Human Genetic Disorders
Their symptoms…

2. Crouzon Syndrome genetic disorder, skull bones fuse, 1-25,000 are affected*

3.                                                                 
Meet Kenadie!
Kenadie 3yrs.old
Tyran 18mths.

4. Primodial Dwarfism

5. Children with Down’s syndrome Trisomy 21*

6. Down’s Syndrome Nondisjunction*

7. Patau Syndrome  extra chr. #13
Severe abnormal brain function
Facial malformations
Usually die in early infancy

8. Edward Syndrome  extra chr. #18
Severe mental retardation
Characteristic malformations of skull, pelvis and feet
Die in early infancy

9. Klinefelters Syndrome XXY Nondisjunction
Tallness with extra long arms and legs
Abnormal body proportions (long legs, short trunk)
Lack of facial and body hair
Sterile
Learning disabilities
Personality impairment

10. Turners syndrome “X” Nondisjunction
MONOSOMY – 45 chromosomes (missing X chromosome
FEMALE – usually infertile
MOSAIC  mutation occurs in SOME of their cells (not all cells)
1 in 2,500 females born with Turners

11. Symptoms of Turner Syndrome
short stature
webbed skin of the neck
drooping eyelids
absent secondary sex characteristics
infertility

12. Webbed Neck

13. Mom and her daughter with Turner’s Syndrome*

14. XYY Syndrome: *

15. XXX Syndrome 47 Chr. Sometimes sterile Normal mental ability
Sometimes taller