Welcome Doctors!
to the National Conference on
Genetic Disorders
What causes Cystic Fibrosis?
A defective recessive gene causes the body to produce abnormally thick mucus in lungs.
What are symptoms of
Cystic Fibrosis?
1.Coughing2.Short of breath3.Nausea4.Increased mucus
This is a recessive trait.
You’re only affected if you have a double recessive. Ex. ff
Dad is Ff Mom is Ff
Affected kid is ff
What causes Down
Syndrome?
Down Syndrome is caused by an extra chromosome # 21
What are symptoms of
Down Syndrome?
1.Flattened facial features2.Mental retardation3.Short stature4.Smaller head
One in every 691 live births is a child with Down syndrome
These are pictures of children with Down Syndrome
What causes Hemophillia?
Hemophillia is caused by a defective gene- results in blood not clotting properly.
What are symptoms of
Hemophillia?
1.Frequent breathlessness2.Shooting abdominal pain3.Fever4.paleness
Hemophilia has often been called the "Royal Disease." Queen Victoria of England was a carrier of the hemophilia gene and passed the disease on to several royal families.
What causes Klinefelter
Syndrome?
Klinefelter Syndrome is caused by an extra “X” chromosome in males
What are symptoms of
Klinefelter Syndrome?
1.Low levels of testosterone
2.Less facial hair3.Sterile (can’t have
children)4.Wide hips
•Normal males have XY sex chromosomes
•Males with Klinefelter have XXY sex chromosomes