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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 Autosomal dominant. inherited in an autosomal pattern which
ge- netic trait type means one copy of the altered gene in each cell is sufficient
to cause the disorder.
6. What causes Defects or deletions (pathogenic variants) of the fibrillin-1
Marfan's (FBN1) gene have been shown to cause Marfan’s
syndrome? syndrome
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,PATHOPHYSIOLOGY D115 WGU EXAM
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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
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, PATHOPHYSIOLOGY D115 WGU EXAM
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9. Turner syndrome Underdeveloped ovaries
char- acteristics (sterile) Short stature (~
4'7")
Webbing of the neck
Edema
Underdeveloped breasts; wide
nipples High number of aborted
10. Diagnostic testing
fetuses
for Turner's
syndrome genetic testing , echo, bone density, and bone age testing are
neces- sary.
11. Treatment of
Turners syndrome Treatment involves estrogen therapy and growth hormone
administra- 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 fatty hump between shoulders, a rounded face(moon faced),
syndrome and pink or purple stretch marks on skin, thinning fragile skin,
symptoms 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- tant Staphylococcus au- reus)
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