Walden University NURS 6501 Exam 2 (docx) |
2026/2027 | Genetics & Genetic Disorders Q&A |
Nursing
Original exam preparation material; not official university examination content. Public course
descriptions confirm the course but do not establish the specific Exam 2 blueprint.
1. In evaluating autosomal dominant inheritance, which interpretation is most accurate for
advanced pathophysiology?
A) One altered allele can produce the phenotype
B) Autosomal dominant inheritance always follows a simple autosomal dominant pattern
C) Autosomal dominant inheritance has no implications for family history or clinical assessment
D) Autosomal dominant inheritance can be confirmed solely from one nonspecific symptom
Correct Answer: One altered allele can produce the phenotype
Rationale: One altered allele can produce the phenotype. A heterozygous pathogenic variant can be
sufficient to cause disease. Two altered alleles are not invariably required. In advanced
pathophysiology, interpreting autosomal dominant inheritance requires connecting the molecular or
inheritance mechanism to phenotype, family assessment, and the limits of available evidence; the
other options overgeneralize or rely on insufficient clinical information.
2. In evaluating cystic fibrosis, which interpretation is most accurate for advanced pathophysiology?
A) Cystic fibrosis always follows a simple autosomal dominant pattern
B) CFTR dysfunction impairs epithelial chloride and bicarbonate transport
C) Cystic fibrosis has no implications for family history or clinical assessment
D) Cystic fibrosis can be confirmed solely from one nonspecific symptom
,Correct Answer: CFTR dysfunction impairs epithelial chloride and bicarbonate transport
Rationale: CFTR dysfunction impairs epithelial chloride and bicarbonate transport. Abnormal
secretions contribute to pulmonary and pancreatic disease. Presentation and treatment response
vary by genotype. In advanced pathophysiology, interpreting cystic fibrosis requires connecting the
molecular or inheritance mechanism to phenotype, family assessment, and the limits of available
evidence; the other options overgeneralize or rely on insufficient clinical information.
3. In evaluating trisomy 21, which interpretation is most accurate for advanced pathophysiology?
A) Trisomy 21 always follows a simple autosomal dominant pattern
B) Trisomy 21 has no implications for family history or clinical assessment
C) An extra copy of chromosome 21 causes most cases of Down syndrome
D) Trisomy 21 can be confirmed solely from one nonspecific symptom
Correct Answer: An extra copy of chromosome 21 causes most cases of Down syndrome
Rationale: An extra copy of chromosome 21 causes most cases of Down syndrome. Gene dosage
imbalance affects multiple developmental pathways. Not all cases arise from inherited
translocation. In advanced pathophysiology, interpreting trisomy 21 requires connecting the
molecular or inheritance mechanism to phenotype, family assessment, and the limits of available
evidence; the other options overgeneralize or rely on insufficient clinical information.
4. In evaluating germline mosaicism, which interpretation is most accurate for advanced
pathophysiology?
A) Germline mosaicism always follows a simple autosomal dominant pattern
B) Germline mosaicism has no implications for family history or clinical assessment
,C) Germline mosaicism can be confirmed solely from one nonspecific symptom
D) Unaffected parents may have more than one child with the same de novo-appearing disorder
Correct Answer: Unaffected parents may have more than one child with the same de novo-
appearing disorder
Rationale: Unaffected parents may have more than one child with the same de novo-appearing
disorder. A subset of parental germ cells can harbor the pathogenic variant. Testing parental blood
may miss germline-restricted variants. In advanced pathophysiology, interpreting germline
mosaicism requires connecting the molecular or inheritance mechanism to phenotype, family
assessment, and the limits of available evidence; the other options overgeneralize or rely on
insufficient clinical information.
5. In evaluating genomic imprinting, which interpretation is most accurate for advanced
pathophysiology?
A) Gene expression can depend on the parent from whom an allele was inherited
B) Genomic imprinting always follows a simple autosomal dominant pattern
C) Genomic imprinting has no implications for family history or clinical assessment
D) Genomic imprinting can be confirmed solely from one nonspecific symptom
Correct Answer: Gene expression can depend on the parent from whom an allele was inherited
Rationale: Gene expression can depend on the parent from whom an allele was inherited. Parent-
specific epigenetic marks regulate some loci. Uniparental disomy may disturb normal imprinted
expression. In advanced pathophysiology, interpreting genomic imprinting requires connecting the
molecular or inheritance mechanism to phenotype, family assessment, and the limits of available
evidence; the other options overgeneralize or rely on insufficient clinical information.
6. In evaluating newborn screening, which interpretation is most accurate for advanced
pathophysiology?
, A) Newborn screening always follows a simple autosomal dominant pattern
B) A positive screening result requires appropriate confirmatory testing
C) Newborn screening has no implications for family history or clinical assessment
D) Newborn screening can be confirmed solely from one nonspecific symptom
Correct Answer: A positive screening result requires appropriate confirmatory testing
Rationale: A positive screening result requires appropriate confirmatory testing. Screening prioritizes
early identification of treatable conditions. A screen-positive result alone is not a diagnosis. In
advanced pathophysiology, interpreting newborn screening requires connecting the molecular or
inheritance mechanism to phenotype, family assessment, and the limits of available evidence; the
other options overgeneralize or rely on insufficient clinical information.
7. In evaluating copy-number variation, which interpretation is most accurate for advanced
pathophysiology?
A) Copy-number variation always follows a simple autosomal dominant pattern
B) Copy-number variation has no implications for family history or clinical assessment
C) Deletion or duplication can change the number of copies of a genomic segment
D) Copy-number variation can be confirmed solely from one nonspecific symptom
Correct Answer: Deletion or duplication can change the number of copies of a genomic
segment
Rationale: Deletion or duplication can change the number of copies of a genomic segment. Dosage-
sensitive genes may cause disease when copy number changes. Standard sequencing may not
reliably detect every large copy-number change. In advanced pathophysiology, interpreting copy-
2026/2027 | Genetics & Genetic Disorders Q&A |
Nursing
Original exam preparation material; not official university examination content. Public course
descriptions confirm the course but do not establish the specific Exam 2 blueprint.
1. In evaluating autosomal dominant inheritance, which interpretation is most accurate for
advanced pathophysiology?
A) One altered allele can produce the phenotype
B) Autosomal dominant inheritance always follows a simple autosomal dominant pattern
C) Autosomal dominant inheritance has no implications for family history or clinical assessment
D) Autosomal dominant inheritance can be confirmed solely from one nonspecific symptom
Correct Answer: One altered allele can produce the phenotype
Rationale: One altered allele can produce the phenotype. A heterozygous pathogenic variant can be
sufficient to cause disease. Two altered alleles are not invariably required. In advanced
pathophysiology, interpreting autosomal dominant inheritance requires connecting the molecular or
inheritance mechanism to phenotype, family assessment, and the limits of available evidence; the
other options overgeneralize or rely on insufficient clinical information.
2. In evaluating cystic fibrosis, which interpretation is most accurate for advanced pathophysiology?
A) Cystic fibrosis always follows a simple autosomal dominant pattern
B) CFTR dysfunction impairs epithelial chloride and bicarbonate transport
C) Cystic fibrosis has no implications for family history or clinical assessment
D) Cystic fibrosis can be confirmed solely from one nonspecific symptom
,Correct Answer: CFTR dysfunction impairs epithelial chloride and bicarbonate transport
Rationale: CFTR dysfunction impairs epithelial chloride and bicarbonate transport. Abnormal
secretions contribute to pulmonary and pancreatic disease. Presentation and treatment response
vary by genotype. In advanced pathophysiology, interpreting cystic fibrosis requires connecting the
molecular or inheritance mechanism to phenotype, family assessment, and the limits of available
evidence; the other options overgeneralize or rely on insufficient clinical information.
3. In evaluating trisomy 21, which interpretation is most accurate for advanced pathophysiology?
A) Trisomy 21 always follows a simple autosomal dominant pattern
B) Trisomy 21 has no implications for family history or clinical assessment
C) An extra copy of chromosome 21 causes most cases of Down syndrome
D) Trisomy 21 can be confirmed solely from one nonspecific symptom
Correct Answer: An extra copy of chromosome 21 causes most cases of Down syndrome
Rationale: An extra copy of chromosome 21 causes most cases of Down syndrome. Gene dosage
imbalance affects multiple developmental pathways. Not all cases arise from inherited
translocation. In advanced pathophysiology, interpreting trisomy 21 requires connecting the
molecular or inheritance mechanism to phenotype, family assessment, and the limits of available
evidence; the other options overgeneralize or rely on insufficient clinical information.
4. In evaluating germline mosaicism, which interpretation is most accurate for advanced
pathophysiology?
A) Germline mosaicism always follows a simple autosomal dominant pattern
B) Germline mosaicism has no implications for family history or clinical assessment
,C) Germline mosaicism can be confirmed solely from one nonspecific symptom
D) Unaffected parents may have more than one child with the same de novo-appearing disorder
Correct Answer: Unaffected parents may have more than one child with the same de novo-
appearing disorder
Rationale: Unaffected parents may have more than one child with the same de novo-appearing
disorder. A subset of parental germ cells can harbor the pathogenic variant. Testing parental blood
may miss germline-restricted variants. In advanced pathophysiology, interpreting germline
mosaicism requires connecting the molecular or inheritance mechanism to phenotype, family
assessment, and the limits of available evidence; the other options overgeneralize or rely on
insufficient clinical information.
5. In evaluating genomic imprinting, which interpretation is most accurate for advanced
pathophysiology?
A) Gene expression can depend on the parent from whom an allele was inherited
B) Genomic imprinting always follows a simple autosomal dominant pattern
C) Genomic imprinting has no implications for family history or clinical assessment
D) Genomic imprinting can be confirmed solely from one nonspecific symptom
Correct Answer: Gene expression can depend on the parent from whom an allele was inherited
Rationale: Gene expression can depend on the parent from whom an allele was inherited. Parent-
specific epigenetic marks regulate some loci. Uniparental disomy may disturb normal imprinted
expression. In advanced pathophysiology, interpreting genomic imprinting requires connecting the
molecular or inheritance mechanism to phenotype, family assessment, and the limits of available
evidence; the other options overgeneralize or rely on insufficient clinical information.
6. In evaluating newborn screening, which interpretation is most accurate for advanced
pathophysiology?
, A) Newborn screening always follows a simple autosomal dominant pattern
B) A positive screening result requires appropriate confirmatory testing
C) Newborn screening has no implications for family history or clinical assessment
D) Newborn screening can be confirmed solely from one nonspecific symptom
Correct Answer: A positive screening result requires appropriate confirmatory testing
Rationale: A positive screening result requires appropriate confirmatory testing. Screening prioritizes
early identification of treatable conditions. A screen-positive result alone is not a diagnosis. In
advanced pathophysiology, interpreting newborn screening requires connecting the molecular or
inheritance mechanism to phenotype, family assessment, and the limits of available evidence; the
other options overgeneralize or rely on insufficient clinical information.
7. In evaluating copy-number variation, which interpretation is most accurate for advanced
pathophysiology?
A) Copy-number variation always follows a simple autosomal dominant pattern
B) Copy-number variation has no implications for family history or clinical assessment
C) Deletion or duplication can change the number of copies of a genomic segment
D) Copy-number variation can be confirmed solely from one nonspecific symptom
Correct Answer: Deletion or duplication can change the number of copies of a genomic
segment
Rationale: Deletion or duplication can change the number of copies of a genomic segment. Dosage-
sensitive genes may cause disease when copy number changes. Standard sequencing may not
reliably detect every large copy-number change. In advanced pathophysiology, interpreting copy-
