1. Down Syndrome Have 3 copies of chromosome # 21 (trisomy) Nondisjunction genetic disorder Symptoms include cognitive delays, eyes that slant upward and heart defects Affects over 350,000 people in the U.S. No cure or treatment

2. Turner Syndrome Have only one X chromosome (monosomy) Nondisjunction genetic disorder Symptoms include short stauture, lack of ovariam development, webbed neck, arms that turn out, & low hairline in the back of the head. Affects 60,000 girls and women in the U.S. No cure or treatment

3. Klinefelter Syndrome Have a Y & 2 X chromosome (trisomy) Nondisjunction genetic disorder Symptoms include males that do not develop secondary sex characteristics such as facial hair & underarm hair. Affects 1 in 500 to 1 in 1000 male births in the U.S. No cure or treatment

4. Huntington’s Disease Genetic mutation of a normal gene in brain cells Dominant genetic disorder Symptoms include uncontrolled movements, loss of intellectual faculties, & emotional disturbance Affects 1 in 10,000 in the U.S. Medications can be prescribed to help control emotional & movement Normal Brain Huntington’s Disease

5. Achondroplasia Faulty gene that is involved in bone growth Dominant genetic disorder Symptoms include short stature (problems with growth & development of the skeleton) Affects 1 in 20,000 births in the U.S. No cure or treatment

6. Albinism Have little or no pigment (melanin) in their eyes, skin, or hair Recessive genetic disorder Symptoms include red eyes, vision problems, & very light skin & hair. Affects 1 in 17,000 births in the U.S. Treatment: –Eye condition - surgery, glasses, contact lenses –Skin - use UV skin protection

7. Tay Sachs Disease Fatal genetic lipid storage disorder where fatty substances build up in nerve cells in the brain Recessive genetic disorder Symptoms include deterioration of mental & physical abilities (blind, deaf, unable to swallow, muscle atrophy) Very rare - 1 in 27 people are carriers (Ashkenazi Jews) & 1 in 250 people are carriers (general population). No cure or treatment

8. Cystic Fibrosis Approx. 30,000 people in US have CF Excessive mucus production Defective CF gene produces abnormally thick and sticky mucus Digestive & respiratory failure Recessive genetic disorder Coughing or increased mucus in the sinuses or lungs Fatigue & Weight loss Nausea and loss of appetite No cure Daily cleaning of mucus from lungs Take mucus thinning drugs

9. Hemophilia Mutation of genes for the blood clotting factors on the X chromosome Sex-linked trait Symptoms include bleeding continuously until they are treated - blood does not clot. Affects about 18,000 people in U.S. (affects more men than women because women are more likely to be carriers) No cure or treatment

10. Color Blindness Mutation of genes on the X chromosome Sex-linked trait Symptoms include not being able to identify any color or difficulty in telling different shades of color apart. Affects 8% of men & 1% of women (women are more likely to be carriers) No cure or treatment Red-green color blindness – recessive and linked to the X chromosome X C = Colorblind allele X N = Normal allele X N X N = Normal sight X N X C = Carrier for colorblindness X C X C = Colorblind X C Y = Colorblind