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PATHO 313 – Exam 1 Study Guide:
Pathophysiology Review Questions with
Complete Solutions (2026/2027).
1. An ordered photographic display of a set of chromosomes from a
single cell is a(n):
A. Metaphase spread
B. Autosomal spread
C. Karyotype
D. Anaphase spread
CORRECT ANSWER: C
Rationale: A karyotype is an organized profile of a person's
chromosomes arranged in pairs from largest to smallest, used to detect
chromosomal abnormalities. The chromosomes are photographed
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during metaphase, creating a "metaphase spread," but the final
arranged display is the karyotype.
2. An error in which homologous chromosomes fail to separate during
meiosis is termed:
A. Aneuploidy
B. Nondisjunction
C. Polyploidy
D. Anaplasia
CORRECT ANSWER: B
Rationale: Nondisjunction is the failure of homologous chromosomes
or sister chromatids to separate properly during cell division (meiosis I
or II). This results in gametes with an abnormal number of
chromosomes, leading to conditions like Down syndrome (trisomy 21).
3. A somatic cell that does not contain a multiple of 23 chromosomes
is called:
A. An aneuploid cell
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B. A euploid cell
C. A polyploid cell
D. A haploid cell
CORRECT ANSWER: A
Rationale: Aneuploidy refers to a cell having an abnormal number of
chromosomes that is not an exact multiple of the haploid number
(n=23). Examples include trisomy (3 copies) or monosomy (1 copy).
Euploid cells have exact multiples (e.g., diploid 2n=46).
4. A 20-year-old pregnant female gives birth to a stillborn child.
Autopsy reveals that the fetus has 92 chromosomes. Which of the
following describes this condition?
A. Euploidy
B. Triploidy
C. Tetraploidy
D. Aneuploidy
CORRECT ANSWER: C
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Rationale: A normal diploid human cell has 46 chromosomes
(2n). Tetraploidy means 4 complete sets of chromosomes (4n = 92
chromosomes). This is usually lethal and results in miscarriage or
stillbirth. Triploidy (3n = 69) is another lethal condition.
5. If a person is a chromosomal mosaic, the person may:
A. Be a carrier of the genetic disease
B. Have a mild form of the genetic disease
C. Have two genetic diseases
D. Be sterile as a result of the genetic disease
CORRECT ANSWER: B
Rationale: Mosaicism occurs when an individual has two or more cell
lines with different karyotypes derived from a single zygote. Symptoms
are often milder because some cells are normal. For example, mosaic
Turner syndrome (45,X/46,XX) may have fewer features than non-
mosaic Turner.
PATHO 313 – Exam 1 Study Guide:
Pathophysiology Review Questions with
Complete Solutions (2026/2027).
1. An ordered photographic display of a set of chromosomes from a
single cell is a(n):
A. Metaphase spread
B. Autosomal spread
C. Karyotype
D. Anaphase spread
CORRECT ANSWER: C
Rationale: A karyotype is an organized profile of a person's
chromosomes arranged in pairs from largest to smallest, used to detect
chromosomal abnormalities. The chromosomes are photographed
,2|Page
during metaphase, creating a "metaphase spread," but the final
arranged display is the karyotype.
2. An error in which homologous chromosomes fail to separate during
meiosis is termed:
A. Aneuploidy
B. Nondisjunction
C. Polyploidy
D. Anaplasia
CORRECT ANSWER: B
Rationale: Nondisjunction is the failure of homologous chromosomes
or sister chromatids to separate properly during cell division (meiosis I
or II). This results in gametes with an abnormal number of
chromosomes, leading to conditions like Down syndrome (trisomy 21).
3. A somatic cell that does not contain a multiple of 23 chromosomes
is called:
A. An aneuploid cell
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B. A euploid cell
C. A polyploid cell
D. A haploid cell
CORRECT ANSWER: A
Rationale: Aneuploidy refers to a cell having an abnormal number of
chromosomes that is not an exact multiple of the haploid number
(n=23). Examples include trisomy (3 copies) or monosomy (1 copy).
Euploid cells have exact multiples (e.g., diploid 2n=46).
4. A 20-year-old pregnant female gives birth to a stillborn child.
Autopsy reveals that the fetus has 92 chromosomes. Which of the
following describes this condition?
A. Euploidy
B. Triploidy
C. Tetraploidy
D. Aneuploidy
CORRECT ANSWER: C
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Rationale: A normal diploid human cell has 46 chromosomes
(2n). Tetraploidy means 4 complete sets of chromosomes (4n = 92
chromosomes). This is usually lethal and results in miscarriage or
stillbirth. Triploidy (3n = 69) is another lethal condition.
5. If a person is a chromosomal mosaic, the person may:
A. Be a carrier of the genetic disease
B. Have a mild form of the genetic disease
C. Have two genetic diseases
D. Be sterile as a result of the genetic disease
CORRECT ANSWER: B
Rationale: Mosaicism occurs when an individual has two or more cell
lines with different karyotypes derived from a single zygote. Symptoms
are often milder because some cells are normal. For example, mosaic
Turner syndrome (45,X/46,XX) may have fewer features than non-
mosaic Turner.
