Page 1 of 87
MEDICAL GENETICS (5TH EDITION) NEWEST EDITION 2026 EXAM LATEST VERSION
SOLVED QUESTIONS & ANSWERS VERIFIED 100 %
Medical Genetics (5th Edition) – Questions with Detailed Rationales
Q1. Achondroplasia has a high mutation rate. This is most likely the result of:
A. Paternal age effect
B. Maternal age effect
C. Large gene size
D. Methylated CG dinucleotide
E. None of the above
Correct Answer: D
Rationale: Achondroplasia is most commonly caused by mutations in the FGFR3 gene
at a methylated CG dinucleotide (CpG) site, which is a mutational hotspot. The high
mutation rate is due to deamination of methylated cytosine.
Q2. The effect of mutations in the SHOX gene would best be described as:
A. Haploinsufficiency
B. Dominant negative
C. Autosomal recessive
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D. Gain of function
E. X-linked recessive
Correct Answer: A
Rationale: Mutations in the SHOX gene cause Léri-Weill dyschondrosteosis and Langer
mesomelic dysplasia through haploinsufficiency. One functional copy of the gene is
insufficient for normal skeletal development.
Q3. Which of the following mechanisms is known to cause Prader-Willi syndrome?
A. Chromosome duplication
B. Translocation
C. Uniparental disomy
D. Autosomal trisomy
E. Autosomal monosomy
Correct Answer: C
Rationale: Prader-Willi syndrome is caused by loss of paternally expressed genes on
chromosome 15q11-q13. This can occur through deletion of the paternal region,
maternal uniparental disomy, or imprinting defects.
Q4. What is the primary purpose of clinical reasoning in medical genetics?
A. To identify the most cost-effective treatment
B. To evaluate and manage a patient's medical problems using analytical and non-
analytical processes
C. To determine the exact DNA sequence of all genes
D. To eliminate all genetic diseases from the population
Correct Answer: B
Rationale: Clinical reasoning is the cognitive process necessary to evaluate and
manage a patient's medical problems. It involves analytical (hypothesis testing) and
non-analytical (pattern recognition) approaches.
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Q5. Which of the following is a peer-reviewed medical genetics journal?
A. Nature Genetics
B. Genetics in Medicine
C. American Journal of Human Genetics
D. All of the above
Correct Answer: D
Rationale: All of these are peer-reviewed journals that publish medical genetics
research.
Q6. What is the concept of "precision medicine" in genetics?
A. Using genetic information to tailor medical treatment to individual patients
B. Providing the same treatment to all patients with the same disease
C. Focusing only on rare genetic disorders
D. Using only traditional diagnostic methods
Correct Answer: A
Rationale: Precision medicine uses genetic, environmental, and lifestyle information to
tailor medical decisions and treatments to individual patients.
Q7. Which historical figure is known as the "Father of Genetics"?
A. Charles Darwin
B. Gregor Mendel
C. James Watson
D. Francis Crick
Correct Answer: B
Rationale: Gregor Mendel established the foundational principles of inheritance
through his experiments with pea plants, making him the "Father of Genetics."
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Q8. What is the principle of segregation?
A. Each organism carries pairs of genes, with only one gene from each pair passed to
offspring
B. Genes at different loci are inherited independently
C. All genes are inherited together
D. Only dominant genes are passed to offspring
Correct Answer: A
Rationale: The principle of segregation states that each organism carries pairs of genes,
and during gamete formation, only one gene from each pair is passed to offspring.
Q9. What is the principle of independent assortment?
A. Each organism carries pairs of genes
B. Genes at different loci are inherited independently of each other
C. All genes are inherited together
D. Only recessive genes are passed to offspring
Correct Answer: B
Rationale: The principle of independent assortment states that genes at different loci
are inherited independently, leading to genetic variation.
Q10. Which of the following is a characteristic of a human gene?
A. Base pairs (size)
B. Location
C. Phenotype
D. All of the above
Correct Answer: D
Rationale: A human gene is characterized by its size (base pairs), location on a
chromosome, and the phenotype it influences.
MEDICAL GENETICS (5TH EDITION) NEWEST EDITION 2026 EXAM LATEST VERSION
SOLVED QUESTIONS & ANSWERS VERIFIED 100 %
Medical Genetics (5th Edition) – Questions with Detailed Rationales
Q1. Achondroplasia has a high mutation rate. This is most likely the result of:
A. Paternal age effect
B. Maternal age effect
C. Large gene size
D. Methylated CG dinucleotide
E. None of the above
Correct Answer: D
Rationale: Achondroplasia is most commonly caused by mutations in the FGFR3 gene
at a methylated CG dinucleotide (CpG) site, which is a mutational hotspot. The high
mutation rate is due to deamination of methylated cytosine.
Q2. The effect of mutations in the SHOX gene would best be described as:
A. Haploinsufficiency
B. Dominant negative
C. Autosomal recessive
, Page 2 of 87
D. Gain of function
E. X-linked recessive
Correct Answer: A
Rationale: Mutations in the SHOX gene cause Léri-Weill dyschondrosteosis and Langer
mesomelic dysplasia through haploinsufficiency. One functional copy of the gene is
insufficient for normal skeletal development.
Q3. Which of the following mechanisms is known to cause Prader-Willi syndrome?
A. Chromosome duplication
B. Translocation
C. Uniparental disomy
D. Autosomal trisomy
E. Autosomal monosomy
Correct Answer: C
Rationale: Prader-Willi syndrome is caused by loss of paternally expressed genes on
chromosome 15q11-q13. This can occur through deletion of the paternal region,
maternal uniparental disomy, or imprinting defects.
Q4. What is the primary purpose of clinical reasoning in medical genetics?
A. To identify the most cost-effective treatment
B. To evaluate and manage a patient's medical problems using analytical and non-
analytical processes
C. To determine the exact DNA sequence of all genes
D. To eliminate all genetic diseases from the population
Correct Answer: B
Rationale: Clinical reasoning is the cognitive process necessary to evaluate and
manage a patient's medical problems. It involves analytical (hypothesis testing) and
non-analytical (pattern recognition) approaches.
, Page 3 of 87
Q5. Which of the following is a peer-reviewed medical genetics journal?
A. Nature Genetics
B. Genetics in Medicine
C. American Journal of Human Genetics
D. All of the above
Correct Answer: D
Rationale: All of these are peer-reviewed journals that publish medical genetics
research.
Q6. What is the concept of "precision medicine" in genetics?
A. Using genetic information to tailor medical treatment to individual patients
B. Providing the same treatment to all patients with the same disease
C. Focusing only on rare genetic disorders
D. Using only traditional diagnostic methods
Correct Answer: A
Rationale: Precision medicine uses genetic, environmental, and lifestyle information to
tailor medical decisions and treatments to individual patients.
Q7. Which historical figure is known as the "Father of Genetics"?
A. Charles Darwin
B. Gregor Mendel
C. James Watson
D. Francis Crick
Correct Answer: B
Rationale: Gregor Mendel established the foundational principles of inheritance
through his experiments with pea plants, making him the "Father of Genetics."
, Page 4 of 87
Q8. What is the principle of segregation?
A. Each organism carries pairs of genes, with only one gene from each pair passed to
offspring
B. Genes at different loci are inherited independently
C. All genes are inherited together
D. Only dominant genes are passed to offspring
Correct Answer: A
Rationale: The principle of segregation states that each organism carries pairs of genes,
and during gamete formation, only one gene from each pair is passed to offspring.
Q9. What is the principle of independent assortment?
A. Each organism carries pairs of genes
B. Genes at different loci are inherited independently of each other
C. All genes are inherited together
D. Only recessive genes are passed to offspring
Correct Answer: B
Rationale: The principle of independent assortment states that genes at different loci
are inherited independently, leading to genetic variation.
Q10. Which of the following is a characteristic of a human gene?
A. Base pairs (size)
B. Location
C. Phenotype
D. All of the above
Correct Answer: D
Rationale: A human gene is characterized by its size (base pairs), location on a
chromosome, and the phenotype it influences.
