GENETIC DISORDERS

Albinism- autosomal recessive trait• http://www.youtube.com/w atch?v=r4q4V2LbzD0• What is it?

• Albinism occurs when one of several genetic defects makes the body unable to produce or distribute melanin, a natural substance that gives color to your hair, skin, and iris of the eye.

• Symptoms• Absence of color in the hair, skin, or iris of the eye• Lighter than normal skin and hair• Patchy, missing skin color

Sickle Cell Anemia• http://www.youtube.com/watch?v=9UpwV1tdxcs• http://www.youtube.com/watch?v=diwVfhx0Jfs• What is it?

• Sickle cell anemia is from a mutated gene that is inherited via a recessive allele. It is not sex-linked.

• Symptoms• Sickle cell anemia is caused by an abnormal type of hemoglobin

called hemoglobin S. Hemoglobin is a protein inside red blood cells that carries oxygen. Hemoglobin S changes the shape of red blood cells, especially when the cells are exposed to low oxygen levels. The red blood cells become shaped like crescents or sickles.

• The fragile, sickle-shaped cells deliver less oxygen to the body's tissues. They can also get stuck more easily in small blood vessels, and break into pieces that interrupt healthy blood flow.

Dwarfism• What is it?

• Dwarfism refers to abnormally short height in childhood due to the lack of growth hormone. Growth hormone is produced in the pituitary gland, located in the brain. Different hormones made in the brain tell the pituitary gland how much growth hormone is needed. Growth hormone enters the blood and stimulates the liver to produce a hormone called insulin-like growth factor (IGF-1), which plays a key role in childhood growth.

• Growth hormone deficiency is not sex-linked

• Symptoms Children with growth hormone deficiency:• have a slow or flat rate of growth, usually

less than 2 inches per year. • will be much shorter than children their age.• may look much younger than their age• puberty may come late or may not come at

all.

Gigantism• What is it?

• Gigantism is abnormally large growth due to an excess of growth hormone during childhood, before the bone growth plates have closed. The most common cause of too much growth hormone release is a noncancerous (benign) tumor of the pituitary gland.

• Gigantism is not sex-linked and the condition is extremely rare. • Symptoms

• The child will grow in height, as well as in the muscles and organs. This excessive growth makes the child extremely large for his or her age.

• Delayed puberty• Large hands and feet with thick

fingers and toes• Weakness

Progeria Video

• What is it?• Autosomal recessive disorder• Excessive aging- name means

“prematurely old”• Symptoms present around 18-

24 months of age.

• Symptoms• Growth failure, loss of body fat

and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular (heart) disease and stroke.

• Fatal by age 13-20

Huntington's Chorea Video

• What is it?• Autosomal dominant• Neurodegenerative disorder• Diagnosed in 40’s (most have

had children at this point and passed trait on)

• Chorea means “to dance”

• Symptoms• Cannot control movement of

limbs, then body, eventually smooth muscles

• Death 10-15 years after diagnosis

• Can take meds to slow progress but not cure…LETHAL

Turners Syndrome• http://www.youtube.com/watch?v=ldjb-FR-PKo• What is it?

• Turner Syndrome (TS) is a chromosomal condition that exclusively affects girls and women. TS occurs when one of the two X chromosomes normally found in females is missing or incomplete

• Symptoms• Short stature• Webbed neck• Swollen hands and feet• Infertility• Kidney problems• Congenital heart defects

Klinefelters Syndrome• http://

www.youtube.com/watch?v=UByxV4fw0Pc&feature=related

• What is it?• Also known as the XXY condition, Klinefelters

syndrome is a chromosomal condition in which males have an extra X chromosome,.

• Symptoms• Low testosterone• Tend to have language difficulties• Can have other health issues such as increased

risk for osteoporosis and autoimmune diseases• Most are infertile

Down Syndrome• http://

video.about.com/pediatrics/Down-Syndrome.htm

• http://www.youtube.com/watch?v=-_-P4t2jR1g

• What is it?• Also known as Trisomy 21, people with

Downs Syndrome have 3 copies of chromosome instead of 2

• Symptoms• Flattened facial features• Upward slanting eyes• Poor muscle tone• Mild to moderate mental retardation