and answers with solutions 2025/2026
Cystic Fibrosis
1) Possibility of passing along
2) Effects of condition
3) Testing - ANSWER 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 - ANSWER 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 - ANSWER 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 - ANSWER 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 - ANSWER 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 - ANSWER 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 - ANSWER 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 - ANSWER 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 - ANSWER 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 - ANSWER 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 - ANSWER The point at which cells can no longer achieve
reversible changes varies according to the type of cell.
Etiology - ANSWER original cause of a cellular alteration or disease
Histology - ANSWER microscopic study of tissues and cells
Biopsy - ANSWER cell sample from an organ or mass of tissue to allow
for histological examination
Pathognomonic changes - ANSWER unique histological findings that
represent distinct disease processes