Diseases

Question 1

Achondroplasia

Answer 1

Autosomal dominant inheritance characterized by short limbs and big head, usually de novo

Question 2

Marfan Syndrome

Answer 2

Systemic disorder of connective tissue, high degree of variability including ocular symptoms, skeletal and cardiovascular, autosomal dominant

Question 3

BRCA mutation

Answer 3

Autosomal dominant, risk factor for breast and ovarian cancer, low degree of penetrance

Question 4

Cystic Fibrosis

Answer 4

Mutation in CFTR gene causing pulmonary and digestive issues, autosomal recessive

Question 5

Sickle cell anemia

Answer 5

Causes RBC aggregation, common in the African American population

Question 6

Hemophilia

Answer 6

X-linked recessive, Facter 8 or 9 mutation causing excessive bleeding

Question 7

Duchenne Muscular Dystrophy

Answer 7

Progressive disease of the skeletal muscle, X-linked recessive

Question 8

Incontinentia Pigmenti

Answer 8

Disorder of skin, hair, teeth, nails, eyes, and CNS, X linked dominant, men usually die

Question 9

MELAS

Answer 9

MITOCHONDRIAL ENCEPHELOMEGALY, LACTIC acidosis, and stroke like episodes, inherited through mitochondrial DNA