Chapter 2. Evidence-Based Clinical Practice Guidelines
Multiple Choice
Identify the choice that best completes the statement or answers the question.
The first step in the genomic assessment of a patient is obtaining information regarding:
1.
A. Family history
B. Environmental exposures
C. Lifestyle and behaviors
D. Current medications
An affected individual who manifests symptoms of a particular condition through whom a family with
2. a genetic
disorder is ascertained is called a(n):
A. Consultand
B. Consulband
C. Index patient
D. Proband
An autosomal dominant disorder involves the:
3.
A. X chromosome
B. Y chromosome
C. Mitochondrial DNA
D. Non-sex chromosomes
To illustrate a union between two second cousin family members in a pedigree, draw:
4.
A. Arrows pointing to the male and female
B. Brackets around the male and female
C. Double horizontal lines between the male and female
D. Circles around the male and female
To illustrate two family members in an adoptive relationship in a pedigree:
5.
A. Arrows are drawn pointing to the male and female
, B. Brackets are drawn around the male and female
C. Double horizontal lines are drawn between the male and
D. Circles are drawn around the male and female
When analyzing the pedigree for autosomal dominant disorders, it is common to see:
6.
A. Several generations of affected members
B. Many consanguineous relationships
C. More members of the maternal lineage affected than
D. More members of the paternal lineage affected than
In autosomal recessive (AR) disorders, individuals need:
7.
A. Only one mutated gene on the sex chromosomes to acquire the
B. Only one mutated gene to acquire the disease
C. Two mutated genes to acquire the disease
D. Two mutated genes to become carriers
In autosomal recessive disorders, carriers have:
8.
A. Two mutated genes; one from each parent that cause
B. A mutation on a sex chromosome that causes a disease
C. A single gene mutation that causes the disease
D. One copy of a gene mutation but not the disease
With an autosomal recessive disorder, it is important that parents understand that if they both carry a
9. mutation, the
following are the risks to each of their offspring (each pregnancy):
A. 50% chance that offspring will carry the
B. 10% chance of offspring affected by disease
Multiple Choice
Identify the choice that best completes the statement or answers the question.
The first step in the genomic assessment of a patient is obtaining information regarding:
1.
A. Family history
B. Environmental exposures
C. Lifestyle and behaviors
D. Current medications
An affected individual who manifests symptoms of a particular condition through whom a family with
2. a genetic
disorder is ascertained is called a(n):
A. Consultand
B. Consulband
C. Index patient
D. Proband
An autosomal dominant disorder involves the:
3.
A. X chromosome
B. Y chromosome
C. Mitochondrial DNA
D. Non-sex chromosomes
To illustrate a union between two second cousin family members in a pedigree, draw:
4.
A. Arrows pointing to the male and female
B. Brackets around the male and female
C. Double horizontal lines between the male and female
D. Circles around the male and female
To illustrate two family members in an adoptive relationship in a pedigree:
5.
A. Arrows are drawn pointing to the male and female
, B. Brackets are drawn around the male and female
C. Double horizontal lines are drawn between the male and
D. Circles are drawn around the male and female
When analyzing the pedigree for autosomal dominant disorders, it is common to see:
6.
A. Several generations of affected members
B. Many consanguineous relationships
C. More members of the maternal lineage affected than
D. More members of the paternal lineage affected than
In autosomal recessive (AR) disorders, individuals need:
7.
A. Only one mutated gene on the sex chromosomes to acquire the
B. Only one mutated gene to acquire the disease
C. Two mutated genes to acquire the disease
D. Two mutated genes to become carriers
In autosomal recessive disorders, carriers have:
8.
A. Two mutated genes; one from each parent that cause
B. A mutation on a sex chromosome that causes a disease
C. A single gene mutation that causes the disease
D. One copy of a gene mutation but not the disease
With an autosomal recessive disorder, it is important that parents understand that if they both carry a
9. mutation, the
following are the risks to each of their offspring (each pregnancy):
A. 50% chance that offspring will carry the
B. 10% chance of offspring affected by disease
