1. Klinefelter’s Syndrome
Genetic Disorders
Down Syndrome
Hemophilia
Sickle-Cell Anemia
Turner’s Syndrome
Klinefelter’s Syndrome
Marfan Syndrome
Albinism

2. Down’s Syndrome Chromosomal Mutation
Afflicted persons have an extra chromosome 21.
Mental Retardation, upward slant to the eyes, decreased muscle tone, small mouth
About 1 in 900 babies will be diagnosed
No treatment

3. Nondisjunction- Failure of homologous chromosomes to separate during meiosis

5. Down Syndrome
Diagnosed using a karotype: a picture of chromosomes taken during Metaphase of mitosis and rearranged to place chromosomes in pairs.
Presence of three chromosomes is called Trisomy. (Here it is trisomy-21)
Higher percentages of occurrence in mothers over the age of 35

6. Down’s Syndrome

7. Hemophilia Gene mutation on the X chromosome
Creates faulty clotting factors so a broken blood vessel continues to bleed.
Diagnosed using blood tests to check for the clotting factors
1 in 4,000 males
More common in males because it is a recessive X-linked trait

8. Hemophilia
Afflicted persons inject themselves with clotting factors after an accident where bleeding won’t stop on its own

9. Sickle-Cell Disease
Gene Mutation in a blood protein, resulting in malformed blood cells
Found in African-Americans
A simple blood test confirms diagnosis
1 in 375 African-Americans
Bone marrow transplant can be successful in small children

10. Sickle-Cell
Causes anemia (fatigue) and blockage in blood vessels

11. Turner’s Syndrome Chromosomal Mutation- a deletion of one X
chromosome in females
(XO- called monosomy)
Females will have a short
stature that may require treatment with growth hormone, women are sterile
1 in 2500 females will have Turners
Diagnosed with an amniocentesis

12. Amniocentesis is a procedure in which a small sample of the amniotic fluid is taken from the amniotic sac (the fluid-filled bag that surrounds the fetus in a pregnant woman. It
has the same genetic
makeup as the fetus.

13. Klinefelter’s Syndrome
Chromosomal Mutation- afflicted males have an extra X chromosome- XXY
The extra X causes the male to have some female features. Underdevelopment of testes and infertility
Caused by nondisjunction of the sex chromosomes
1 in 1,000 births

14. Klinefelter’s Syndrome
Diagnosed in puberty due to presence of abnormal features
Only treatment is testosterone at onset of puberty

15. Marfan Syndrome Gene mutation in the gene that makes connective tissue
Afflicted are abnormally tall, have long arms, hyperflexible joints, caved in chest, heart valve problems
1 in 10,000 births
Most people are not diagnosed until an outlying problem discovered

16. Marfan Syndrome
Some hormone treatments available

17. Albinism
Gene mutation in the genes that produce melanin (the brown pigment found in the skin, hair, and eyes)
Afflicted have blond hair, light colored eyes and very pale skin.
Pale skin causes a higher chance for getting skin cancer, and visual impairments from lack of melanin in eyes

18. Albinism Can happen in any race, and is common in animals as well
1 in 17,000 births

19. Cystic Fibrosis –
Inherited disorder that causes the over production of thick mucus that clogs the lungs and contributes to repeated infections.
Avg. life span increased to 32 years.