Test Bank For Advanced Assessment Interpreting Findings and Formulating Differential Diagnoses 5th Edition

Chapter 2. An Overview of Genetic Assessment Multiple Choice

Identify the choice that best completes the statement or answers the question.

1. The first step in the genomic assessment of a patient is obtaining information regarding:

1. Family history
2. Environmental exposures
3. Lifestyle and behaviors
4. Current medications

2. An affected individual who manifests symptoms of a particular condition through whom a family with a genetic disorder is ascertained is called a(n):
A. Consultant
B. Consulband
C. Index patient
D. Proband

3. An autosomal dominant disorder involves the:
A. X chromosome
B. Y chromosome
C. Mitochondrial DNA
D. Non-sex chromosomes

4. To illustrate a union between two second cousin family members in a pedigree, draw:

1. Arrows pointing to the male and

   female

2. Brackets around the male and female
3. Double horizontal lines between the male and female
4. Circles around the male and female

5. To illustrate two family members in an adoptive relationship in a pedigree:

1. Arrows are drawn pointing to the male and female
2. Brackets are drawn around the male and female
3. Double horizontal lines are drawn between the male and female

D. Circles are drawn around the male and female

6. When analyzing the pedigree for autosomal dominant disorders, it is common to see:

1. Several generations of affected

   members

2. Many consanguineous relationships
3. More members of the maternal lineage affected than paternal
4. More members of the paternal lineage affected than maternal

7. In autosomal recessive (AR) disorders, individuals need:

1. Only one mutated gene on the

   sex chromosomes to acquire the disease

2. Only one mutated gene to acquire the disease
3. Two mutated genes to acquire the disease
4. Two mutated genes to become carriers

8. Inautosomalrecessivedisorders,carriershave:

1. Two mutated genes; one from

   each parent that cause disease

2. A mutation on a sex chromosome that causes a disease
3. A single gene mutation that causes the disease
4. One copy of a gene mutation but not the disease

9. With an autosomal recessive disorder, it is important that parents understand that if they both carry a mutation, the following are the risks to each of their offspring (each pregnancy):

1. 50% chance that offspring will

   carry the disease

2. 10% chance of offspring affected by disease
3. 25% chance children will carry the disease
4. 10% chance children will be disease free