Pathophysiology D115 WGU
1. Turner Syndrome A chromosomal disorder in females in which either an X chromosome
is missing, making the person XO instead of XX, or part of one X
chromosome is deleted.
2. Tay-Sachs disease A human genetic disease caused by a recessive allele that leads to
the accumulation of certain lipids in the brain. Seizures, blindness,
and degeneration of motor and mental performance usually become
manifest a few months after birth.
3. Down Syndrome a condition of mild to severe intellectual disability and associated
physical disorders caused by an extra copy of chromosome 21
4. Marfan Syndrome autosomal dominant trait..
a genetic disorder that changes the proteins that help make healthy
connective tissue. This leads to problems with the development of
connective tissue, which supports the bones, muscles, organs, and
tissues in your body.
5. Marfans syndrome ge- Autosomal dominant. inherited in an autosomal pattern which means
netic trait type one copy of the altered gene in each cell is sufficient to cause the
disorder.
6. What causes Marfan's Defects or deletions (pathogenic variants) of the fibrillin-1 (FBN1)
syndrome? gene have been shown to cause Marfans syndrome
at least 25% of Marfan syndrome cases result from a new mutation in
the FBN1 gene
7. spina bifida a congenital defect that occurs during early pregnancy when the spinal
canal fails to close completely around the spinal cord to protect it
8. What can cause Spina Bi- Decreased folic acid or maternal use of valproic acid
fida
, Pathophysiology D115 WGU
9. Turner syndrome char- Underdeveloped ovaries (sterile)
acteristics Short stature (~ 4'7")
Webbing of the neck
Edema
Underdeveloped breasts; wide nipples
High number of aborted fetuses
10. Diagnostic testing for genetic testing , echo, bone density, and bone age testing are neces-
Turner's syndrome sary.
11. Treatment of Turners Treatment involves estrogen therapy and growth hormone administra-
syndrome tion. Treat symptomatically for all other effects of the dz.
12. Cushing's Syndrome a condition caused by prolonged exposure to high levels of cortisol
13. Cushing syndrome fatty hump between shoulders, a rounded face(moon faced), and pink
symptoms or purple stretch marks on skin, thinning fragile skin, slow healing of
cuts, insect bites and infections, acne, decreased libido, decreased fer-
tility, irregular or absent menstrual periods, fatigue, muscle weakness,
cognitive difficulties, and headaches.
14. Viral hemorragic fevers spread by contact with infected animals or insects. Most common hosts
are mosquitos, ticks, rodents, or bats.
15. MRSA (methicillin-resis- an infection caused by specific bacteria that has become resistant to
tant Staphylococcus au- many antibiotics
reus)
16. B12 anemia cobalamin deficiency, is a condition that develops when your body
can't make enough healthy red blood cells because it doesn't have
enough vitamin B12. Your body needs vitamin B12 to make healthy red
blood cells, white blood cells, and platelets. (pernicious anemia)
1. Turner Syndrome A chromosomal disorder in females in which either an X chromosome
is missing, making the person XO instead of XX, or part of one X
chromosome is deleted.
2. Tay-Sachs disease A human genetic disease caused by a recessive allele that leads to
the accumulation of certain lipids in the brain. Seizures, blindness,
and degeneration of motor and mental performance usually become
manifest a few months after birth.
3. Down Syndrome a condition of mild to severe intellectual disability and associated
physical disorders caused by an extra copy of chromosome 21
4. Marfan Syndrome autosomal dominant trait..
a genetic disorder that changes the proteins that help make healthy
connective tissue. This leads to problems with the development of
connective tissue, which supports the bones, muscles, organs, and
tissues in your body.
5. Marfans syndrome ge- Autosomal dominant. inherited in an autosomal pattern which means
netic trait type one copy of the altered gene in each cell is sufficient to cause the
disorder.
6. What causes Marfan's Defects or deletions (pathogenic variants) of the fibrillin-1 (FBN1)
syndrome? gene have been shown to cause Marfans syndrome
at least 25% of Marfan syndrome cases result from a new mutation in
the FBN1 gene
7. spina bifida a congenital defect that occurs during early pregnancy when the spinal
canal fails to close completely around the spinal cord to protect it
8. What can cause Spina Bi- Decreased folic acid or maternal use of valproic acid
fida
, Pathophysiology D115 WGU
9. Turner syndrome char- Underdeveloped ovaries (sterile)
acteristics Short stature (~ 4'7")
Webbing of the neck
Edema
Underdeveloped breasts; wide nipples
High number of aborted fetuses
10. Diagnostic testing for genetic testing , echo, bone density, and bone age testing are neces-
Turner's syndrome sary.
11. Treatment of Turners Treatment involves estrogen therapy and growth hormone administra-
syndrome tion. Treat symptomatically for all other effects of the dz.
12. Cushing's Syndrome a condition caused by prolonged exposure to high levels of cortisol
13. Cushing syndrome fatty hump between shoulders, a rounded face(moon faced), and pink
symptoms or purple stretch marks on skin, thinning fragile skin, slow healing of
cuts, insect bites and infections, acne, decreased libido, decreased fer-
tility, irregular or absent menstrual periods, fatigue, muscle weakness,
cognitive difficulties, and headaches.
14. Viral hemorragic fevers spread by contact with infected animals or insects. Most common hosts
are mosquitos, ticks, rodents, or bats.
15. MRSA (methicillin-resis- an infection caused by specific bacteria that has become resistant to
tant Staphylococcus au- many antibiotics
reus)
16. B12 anemia cobalamin deficiency, is a condition that develops when your body
can't make enough healthy red blood cells because it doesn't have
enough vitamin B12. Your body needs vitamin B12 to make healthy red
blood cells, white blood cells, and platelets. (pernicious anemia)
