Patho Test Perfect Revised Study Guide
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 -This condition is inherited in an autosomal
dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause
the disorder.
At least 25 percent of Marfan syndrome cases result from a new mutation in the FBN1 gene
Marfan's Syndromes genetic trait type
Marfan syndrome is inherited as an autosomal dominant trait, meaning that only one
abnormal copy of the Marfan gene inherited from one parent is sufficient to have the
condition. Defects or deletions (pathogenic variants) of the fibrillin-1 (FBN1) gene have been
shown to cause Marfan syndrome.
Spina Bifida
Not having enough folic acid during pregnancy is one of the most important factors that can
increase the chances of having a child with spina bifida.
Turner Syndrome - characteristics
Patients with suspected Turner syndrome require genetic testing and hormone level evaluation.
Echocardiogram, bone density, and bone age testing are necessary. Treatment involves estrogen
therapy and growth hormone administration. The patient should be treated symptomatically for
all other effects of the disease.
#Underdeveloped ovaries (sterile)
#Short stature (~ 4'7")
#Webbing of the neck
#Edema
#Underdeveloped breasts; wide
nipples #High number of aborted
fetuses
Cushing's syndrome =moonfaced
Viral hemorrhagic fevers are spread by contact with infected animals or insects. The viruses that
cause viral hemorrhagic fevers live in a variety of animal and insect hosts.
Most commonly, the hosts include mosquitoes, ticks, rodents, or bats. Some viral hemorrhagic
fevers can also be spread from person to person.
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 for a dysfunctional enzyme leads to the
accumulation of certain lipids in the brain.
Seizures, blindness, and degeneration of motor and mental performance usually become
manifest a few
