Exam Study Guide with complete i,- i,- i,- i,- i,-
solutions | Latest 2025/2026 Update. i,- i,- i,- i,-
What causes Marfan's syndrome?
i,- Defects or deletions
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(pathogenic variants) of the fibrillin-1 (FBN1) gene have been
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shown to cause Marfans syndrome
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at least 25% of Marfan syndrome cases result from a new
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mutation in the FBN1 gene i,- i,- i,- i,-
spina bifida i,-a congenital defect that occurs during early
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pregnancy when the spinal canal fails to close completely around
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the spinal cord to protect it
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What can cause Spina Bifida
i,- i,- i,- i,- i,-i,- i,- Decreased folic acid or maternal i,- i,- i,- i,- i,-
use of valproic acid
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Turner syndrome characteristics
i,- i,- i,-i,- i,- Underdeveloped ovaries i,- i,-
(sterile)
Short stature (~ 4'7")
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Webbing of the neck i,- i,- i,-
,Edema
Underdeveloped breasts; wide nipples i,- i,- i,- i,-
High number of aborted fetuses
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Diagnostic testing for Turner's syndrome genetic testing ,
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echo, bone density, and bone age testing are necessary.
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Treatment of Turners syndrome Treatment involves estrogen
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therapy and growth hormone administration. Treat
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symptomatically for all other effects of the dz. i,- i,- i,- i,- i,- i,- i,-
Cushing's Syndrome a condition caused by prolonged
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exposure to high levels of cortisol i,- i,- i,- i,- i,-
Cushing syndrome symptoms i,- fatty hump between shoulders, i,- i,-i,- i,- i,- i,- i,- i,-
a rounded face(moon faced), and pink or purple stretch marks on
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skin, thinning fragile skin, slow healing of cuts, insect bites and
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infections, acne, decreased libido, decreased fertility, irregular or
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absent menstrual periods, fatigue, muscle weakness, cognitive
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difficulties, and headaches. i,- i,-
Turner Syndrome A chromosomal disorder in females in
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which either an X chromosome is missing, making the person XO
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instead of XX, or part of one X chromosome is deleted.
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,Tay-Sachs disease A human genetic disease caused by a
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recessive allele that leads to the accumulation of certain lipids in
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the brain. Seizures, blindness, and degeneration of motor and
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mental performance usually become manifest a few months after
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birth.
Down Syndrome i,- a condition of mild to severe intellectual i,-i,- i,- i,- i,- i,- i,- i,- i,- i,-
disability and associated physical disorders caused by an extra
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copy of chromosome 21
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Marfan Syndrome i,- i,-i,- i,- autosomal dominant trait.. i,- i,- i,-
a genetic disorder that changes the proteins that help make
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healthy connective tissue. This leads to problems with the
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development of connective tissue, which supports the bones, i,- i,- i,- i,- i,- i,- i,- i,-
muscles, organs, and tissues in your body.
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Marfans syndrome genetic trait type
i,- Autosomal dominant. i,- i,- i,- i,-i,- i,- i,- i,-
inherited in an autosomal pattern which means one copy of the
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altered gene in each cell is sufficient to cause the disorder.
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, Viral hemorragic fevers
i,- spread by contact with infected i,- i,-i,- i,- i,- i,- i,- i,- i,-
animals or insects. Most common hosts are mosquitos, ticks,
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rodents, or bats. i,- i,-
MRSA (methicillin-resistant Staphylococcus aureus)
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infection caused by specific bacteria that has become resistant to
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many antibiotics i,-
B12 anemia
i,- cobalamin deficiency, is a condition that i,-i,- i,- i,- i,- i,- i,- i,- i,-
develops when your body can't make enough healthy red blood
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cells because it doesn't have enough vitamin B12. Your body
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needs vitamin B12 to make healthy red blood cells, white blood
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cells, and platelets. (pernicious anemia)
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Pernicious Anemia a type of vitamin B12 anemia. An
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autoimmune condition in which the body's immune system i,- i,- i,- i,- i,- i,- i,- i,-
attacks the actual intrinsic factor (IF) protein or the cells in the
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lining of your stomach that make it.
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Folate (folic acid) deficiency anemia
i,- - Folate is an essential i,- i,- i,- i,-i,- i,- i,- i,- i,- i,- i,-
vitamin for RNA and DNA synthesis within maturing RBC
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- Absorption of folate occurs in the upper small intestine
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