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U of A Pathophysiology NURS 3314 Test 1
Questions and Correct Answers/ Latest
Update / Already Graded
Cystic Fibrosis
1) Possibility of passing along
2) Effects of condition
3) Testing
Ans: 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
Ans: 1) autosomal dominant; 50% chance of child having
condition if one parent is affected
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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
Ans: 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
Ans: 1) chromosomal abnormality; complete or partially
missing X chromosome in females
2) hypogonadism, short stature, webbing of neck, often unable
to reproduce
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3) prenatal diagnosis- amniocentesis or chorionic villus
sampling
Klinefelter Syndrome
1) Possibility of passing along
2) Effects of condition
3) Testing
Ans: 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
Ans: 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
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3) prenatal screening
Fragile X Syndrome
1) Possibility of passing along
2) Effects of condition
3) Testing
Ans: 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
Ans: 1) autosomal dominant; 50% chance of child having
condition if one parent affected
2) neurological disorder with adult-onset;
All rights reserved © 2025/ 2026 |
U of A Pathophysiology NURS 3314 Test 1
Questions and Correct Answers/ Latest
Update / Already Graded
Cystic Fibrosis
1) Possibility of passing along
2) Effects of condition
3) Testing
Ans: 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
Ans: 1) autosomal dominant; 50% chance of child having
condition if one parent is affected
All rights reserved © 2025/ 2026 |
, Page |2
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
Ans: 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
Ans: 1) chromosomal abnormality; complete or partially
missing X chromosome in females
2) hypogonadism, short stature, webbing of neck, often unable
to reproduce
All rights reserved © 2025/ 2026 |
, Page |3
3) prenatal diagnosis- amniocentesis or chorionic villus
sampling
Klinefelter Syndrome
1) Possibility of passing along
2) Effects of condition
3) Testing
Ans: 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
Ans: 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
All rights reserved © 2025/ 2026 |
, Page |4
3) prenatal screening
Fragile X Syndrome
1) Possibility of passing along
2) Effects of condition
3) Testing
Ans: 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
Ans: 1) autosomal dominant; 50% chance of child having
condition if one parent affected
2) neurological disorder with adult-onset;
All rights reserved © 2025/ 2026 |
