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. Physical Symptoms of Downs Syndrome
Decreased or poor muscle tone
Short neck, with excess skin at the back of the neck
Flattened facial profile and nose
Small head, ears, and mouth
Upward slanting eyes, often with a skin fold that comes out from the upper eyelid and covers the inner corner of the eye
Wide, short hands with short fingers
A single, deep, crease across the palm of the hand
A deep groove between the first and second toes

8. Intellectual and Developmental Symptoms
Short attention span
Poor judgment
Impulsive behavior
Slow learning
Delayed language and speech development

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

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

11. 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

12. 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

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

14. Webbed Neck *

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

16. XYY Syndrome *

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