NURS 231/NURS231 Module 2 V1 |
Pathophysiology Q&A with Rationale | Portage
Learning
1. A patient presents with a karyotype showing 45, X. Which clinical condition is most likely
associated with this finding?
A. Turner Syndrome
B. Down Syndrome
C. Klinefelter Syndrome
D. Fragile X Syndrome
Correct Answer: A
Explanation: Turner syndrome is characterized by a complete or partial absence of one X
chromosome in females, resulting in a 45, X genotype. Typical clinical features include
short stature, webbed neck, and a lack of secondary sexual characteristics. This monosomy
is the only whole-chromosome monosomy compatible with life in humans.
2. In the context of autosomal dominant inheritance, what is the probability that a child will
inherit the disorder if one parent is heterozygous for the trait and the other is unaffected?
A. 25%
B. 100%
C. 75%
,D. 50%
Correct Answer: D
Explanation: Autosomal dominant disorders require only one copy of the mutated gene to
manifest the phenotype. When a heterozygous parent (Aa) mates with an unaffected parent
(aa), the offspring have a 50% chance of being Aa and a 50% chance of being aa. This
inheritance pattern does not skip generations and affects males and females equally.
3. Which of the following is a hallmark characteristic of malignant neoplasms compared to
benign neoplasms?
A. Slow rate of growth
B. Well-differentiated cells
C. Ability to metastasize
D. Presence of a fibrous capsule
Correct Answer: C
Explanation: Malignant neoplasms are defined by their ability to invade surrounding
tissues and spread to distant sites through the blood or lymph. Unlike benign tumors, they
lack a clear capsule and often exhibit anaplasia, meaning the cells are poorly differentiated.
Metastasis is the definitive criterion that distinguishes malignancy from benign growth.
4. A 22-year-old male is diagnosed with Klinefelter syndrome. Which of the following
chromosomal configurations represents this diagnosis?
A. 47, XXX
, B. 47, XYY
C. 45, X
D. 47, XXY
Correct Answer: D
Explanation: Klinefelter syndrome is an aneuploid condition where a male possesses at
least one extra X chromosome, typically 47, XXY. This condition leads to testicular
dysgenesis, decreased testosterone levels, and often increased height. The extra X
chromosome usually results from nondisjunction during parental gametogenesis.
5. Which term describes the process by which a normal cell transforms into a cancer cell due
to genetic mutations?
A. Apoptosis
B. Carcinogenesis
C. Differentiation
D. Hypertrophy
Correct Answer: B
Explanation: Carcinogenesis is the multistep process of cancer development, involving
initiation, promotion, and progression. It begins with genetic damage to proto-oncogenes
or tumor suppressor genes, leading to uncontrolled proliferation. This transformation
bypasses normal cellular regulatory mechanisms like apoptosis.
Pathophysiology Q&A with Rationale | Portage
Learning
1. A patient presents with a karyotype showing 45, X. Which clinical condition is most likely
associated with this finding?
A. Turner Syndrome
B. Down Syndrome
C. Klinefelter Syndrome
D. Fragile X Syndrome
Correct Answer: A
Explanation: Turner syndrome is characterized by a complete or partial absence of one X
chromosome in females, resulting in a 45, X genotype. Typical clinical features include
short stature, webbed neck, and a lack of secondary sexual characteristics. This monosomy
is the only whole-chromosome monosomy compatible with life in humans.
2. In the context of autosomal dominant inheritance, what is the probability that a child will
inherit the disorder if one parent is heterozygous for the trait and the other is unaffected?
A. 25%
B. 100%
C. 75%
,D. 50%
Correct Answer: D
Explanation: Autosomal dominant disorders require only one copy of the mutated gene to
manifest the phenotype. When a heterozygous parent (Aa) mates with an unaffected parent
(aa), the offspring have a 50% chance of being Aa and a 50% chance of being aa. This
inheritance pattern does not skip generations and affects males and females equally.
3. Which of the following is a hallmark characteristic of malignant neoplasms compared to
benign neoplasms?
A. Slow rate of growth
B. Well-differentiated cells
C. Ability to metastasize
D. Presence of a fibrous capsule
Correct Answer: C
Explanation: Malignant neoplasms are defined by their ability to invade surrounding
tissues and spread to distant sites through the blood or lymph. Unlike benign tumors, they
lack a clear capsule and often exhibit anaplasia, meaning the cells are poorly differentiated.
Metastasis is the definitive criterion that distinguishes malignancy from benign growth.
4. A 22-year-old male is diagnosed with Klinefelter syndrome. Which of the following
chromosomal configurations represents this diagnosis?
A. 47, XXX
, B. 47, XYY
C. 45, X
D. 47, XXY
Correct Answer: D
Explanation: Klinefelter syndrome is an aneuploid condition where a male possesses at
least one extra X chromosome, typically 47, XXY. This condition leads to testicular
dysgenesis, decreased testosterone levels, and often increased height. The extra X
chromosome usually results from nondisjunction during parental gametogenesis.
5. Which term describes the process by which a normal cell transforms into a cancer cell due
to genetic mutations?
A. Apoptosis
B. Carcinogenesis
C. Differentiation
D. Hypertrophy
Correct Answer: B
Explanation: Carcinogenesis is the multistep process of cancer development, involving
initiation, promotion, and progression. It begins with genetic damage to proto-oncogenes
or tumor suppressor genes, leading to uncontrolled proliferation. This transformation
bypasses normal cellular regulatory mechanisms like apoptosis.
