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.
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.
Down Syndrome
a condition of mild to severe intellectual disability and associated physical disorders caused by an
extra copy of chromosome 21
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.
Marfans syndrome genetic trait type
Autosomal dominant. inherited in an autosomal pattern which means one copy of the altered gene in
each cell is sufficient to cause the disorder.
What causes Marfan's syndrome?
,Defects or deletions (pathogenic variants) of the fibrillin-1 (FBN1) gene have been shown to cause
Marfans syndrome
at least 25% of Marfan syndrome cases result from a new mutation in the FBN1 gene
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
What can cause Spina Bifida
Decreased folic acid or maternal use of valproic acid
Turner syndrome characteristics
Underdeveloped ovaries (sterile)
Short stature (~ 4'7")
Webbing of the neck
Edema
Underdeveloped breasts; wide nipples
High number of aborted fetuses
Diagnostic testing for Turner's syndrome
genetic testing , echo, bone density, and bone age testing are necessary.
Treatment of Turners syndrome
Treatment involves estrogen therapy and growth hormone administration. Treat symptomatically for
all other effects of the dz.
, Cushing's Syndrome
a condition caused by prolonged exposure to high levels of cortisol
Cushing syndrome symptoms
fatty hump between shoulders, a rounded face(moon faced), and pink or purple stretch marks on
skin, thinning fragile skin, slow healing of cuts, insect bites and infections, acne, decreased libido,
decreased fertility, irregular or absent menstrual periods, fatigue, muscle weakness, cognitive
difficulties, and headaches.
Viral hemorragic fevers
spread by contact with infected animals or insects. Most common hosts are mosquitos, ticks, rodents,
or bats.
MRSA (methicillin-resistant Staphylococcus aureus)
an infection caused by specific bacteria that has become resistant to many antibiotics
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)
Pernicious Anemia
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.
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.
Down Syndrome
a condition of mild to severe intellectual disability and associated physical disorders caused by an
extra copy of chromosome 21
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.
Marfans syndrome genetic trait type
Autosomal dominant. inherited in an autosomal pattern which means one copy of the altered gene in
each cell is sufficient to cause the disorder.
What causes Marfan's syndrome?
,Defects or deletions (pathogenic variants) of the fibrillin-1 (FBN1) gene have been shown to cause
Marfans syndrome
at least 25% of Marfan syndrome cases result from a new mutation in the FBN1 gene
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
What can cause Spina Bifida
Decreased folic acid or maternal use of valproic acid
Turner syndrome characteristics
Underdeveloped ovaries (sterile)
Short stature (~ 4'7")
Webbing of the neck
Edema
Underdeveloped breasts; wide nipples
High number of aborted fetuses
Diagnostic testing for Turner's syndrome
genetic testing , echo, bone density, and bone age testing are necessary.
Treatment of Turners syndrome
Treatment involves estrogen therapy and growth hormone administration. Treat symptomatically for
all other effects of the dz.
, Cushing's Syndrome
a condition caused by prolonged exposure to high levels of cortisol
Cushing syndrome symptoms
fatty hump between shoulders, a rounded face(moon faced), and pink or purple stretch marks on
skin, thinning fragile skin, slow healing of cuts, insect bites and infections, acne, decreased libido,
decreased fertility, irregular or absent menstrual periods, fatigue, muscle weakness, cognitive
difficulties, and headaches.
Viral hemorragic fevers
spread by contact with infected animals or insects. Most common hosts are mosquitos, ticks, rodents,
or bats.
MRSA (methicillin-resistant Staphylococcus aureus)
an infection caused by specific bacteria that has become resistant to many antibiotics
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)
Pernicious Anemia
