2026/2027
Cystic Fibrosis
1) Possibility of passing along
2) Effects of condition
3) Testing - Answers 1) autosomal recessive, if both parents are carriers, 25% chance of having
the condition
2) increased mucus in lungs and pancreas; significantly affects function of both
3) newborn screening required in the US; genetic testing of parents if family history
Marfan Syndrome
1) Possibility of passing along
2) Effects of condition
3) Testing - Answers 1) autosomal dominant; 50% chance of child having condition if one parent
is affected
2) connective tissue disorder; tall stature; heart structural abnormalities
3) genetic testing; family planning counseling if family history
Tay Sachs Disease
1) Possibility of passing along
2) Effects of condition
3) Testing - Answers 1) autosomal recessive, if both parents are carriers, 25% chance of child
having condition
2) nervous system development affected; death often by age 3
3) prenatal diagnosis; genetic testing of parents if family history
Turner Syndrome
1) Possibility of passing along
2) Effects of condition
3) Testing - Answers 1) chromosomal abnormality; complete or partially missing X
,chromosome in females
2) hypogonadism, short stature, webbing of neck, often unable to reproduce
3) prenatal diagnosis- amniocentesis or chorionic villus sampling
Klinefelter Syndrome
1) Possibility of passing along
2) Effects of condition
3) Testing - Answers 1) chromosomal abnormality in males; 1 in 500-1000 males; 47XXY
2) lack of testes development, decreased cognitive development
3) prenatal diagnosis; many not be detected until adolescence
Down Syndrome
1) Possibility of passing along
2) Effects of condition
3) Testing - Answers 1) most common chromosomal disorder in humans, trisomy 21; 1 in 800
live births; risk increases with maternal age
2) changes in facial structure, neurologic development issues, cardiac abnormalities
3) prenatal screening
Fragile X Syndrome
1) Possibility of passing along
2) Effects of condition
3) Testing - Answers 1) disorder of the X chromosome; 1 in 1500-1800 males and females
respectively
2) affects neurological development
3) moleculer genetic testing to determine extent of X chromosome abnormality
Huntington Disease
1) Possibility of passing along
2) Effects of condition
, 3) Testing - Answers 1) autosomal dominant; 50% chance of child having condition if one parent
affected
2) neurological disorder with adult-onset;
3) genetic testing; condition may be passed onto offspring before parent displays characteristic
associated with the condition
When Injured, Cells have 2 options - Answers 1) Develop adaptive, compensatory changes in an
attempt to maintain homeostasis
2) Develop maladaptive changes, which are derangements of structure or function
Cell Injury and Cell Death - Answers 1) In circumstances of overwhelming insult, cell injury or
cell death can occur.
2) Cell injury can be reversible, but if the injurious agent is persistent or severe enough, cell
injury can lead to cell death
Cell Injury - Answers The point at which cells can no longer achieve reversible changes varies
according to the type of cell.
Etiology - Answers original cause of a cellular alteration or disease
Histology - Answers microscopic study of tissues and cells
Biopsy - Answers cell sample from an organ or mass of tissue to allow for histological
examination
Pathognomonic changes - Answers unique histological findings that represent distinct disease
processes
Homeostasis - Answers 1) This is a dynamic steady state at which the body maintains itself at a
relatively constant composition.
2) A well-functioning cell can maintain homeostasis.
Atrophy - Answers Decreased Cell Size
Example: large muscle ----> disuse ----> smaller muscle
Causes of Cellular Atrophy - Answers 1) Disuse or diminished workload
2) Lack of nerve stimulation (paralysis)
3) Loss of hormonal stimulation
4) Inadequate nutrition