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

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

Nondisjunction- Failure of homologous chromosomes to separate during meiosis

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

Down’s Syndrome

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

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

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

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

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

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.

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

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

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

Marfan Syndrome Some hormone treatments available

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

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

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.