Question 1

When patients express variable forms of the same hereditary disorder this is due to:

Accepted Answer

A)  Penetrance 
B)  Aneuploidy 
C)  De novo mutation 
D)  Sporadic inheritance A

Question 2

An autosomal dominant (AD) disorder involves the:

Accepted Answer

A)  X chromosome 
B)  Y chromosome 
C)  Mitochondrial DNA 
D)  Non-sex chromosomes D

Question 3

A woman with an X-linked dominant disorder will:

Accepted Answer

A)  Not be affected by the disorder herself 
B)  Transmit the disorder to 50% of her offspring (male or female) 
C)  Not transmit the disorder to her daughters 
D)  Transmit the disorder to only her daughters B

Question 4

In autosomal recessive (AR) disorders, carriers have:

Accepted Answer

A)  Two mutated genes: one from each parent that causes disease 
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

Question 5

Which of the following would be considered a red flag that requires more investigation in a patient assessment?

Accepted Answer

A)  Colon cancer in family member at age 70 
B)  Breast cancer in family member at age 75 
C)  Myocardial infarction in family member at age 35 
D)  All of the above

Question 6

With an autosomal recessive (AR) 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):

Accepted Answer

A)  50% chance that offspring will carry the disease 
B)  10% chance that offspring will be affected by the disease 
C)  25% chance that offspring will carry the disease 
D)  10% chance that offspring will be disease free

Question 7

The pedigree of a family with a mitochondrial DNA disorder is unique in that:

Accepted Answer

A)  None of the female offspring will have the disease 
B)  All offspring from an affected female will have the disease 
C)  None of the offspring of an affected female will have the disease 
D)  All offspring from an affected male will have the disease

Question 8

In autosomal recessive (AR) disorders, individuals need:

Accepted Answer

A)  Only one mutated gene on the sex chromosomes to acquire the disease 
B)  Only one mutated gene to acquire the disease 
C)  Two mutated genes to acquire the disease 
D)  Two mutated genes to become carriers

Question 9

Approximately what percentage of cancers are due to a single-gene mutation?

Accepted Answer

A)  50% to 70% 
B)  30% to 40% 
C)  20% to 25% 
D)  5% to 10%

Question 10

When analyzing the pedigree for autosomal dominant (AD) disorders, it is common to see:

Accepted Answer

A)  Several generations of affected members 
B)  Many consanguineous relationships 
C)  More members of the maternal lineage affected than the paternal 
D)  More members of the paternal lineage affected than the maternal

Question 11

The leading causes of death in the United States are due to:

Accepted Answer

A)  Multifactorial inheritance 
B)  Single gene mutations 
C)  X-linked disorders 
D)  Aneuploidy

Question 12

An affected individual who manifests symptoms of a particular condition through whom a family with a genetic disorder is ascertained is called a(n):

Accepted Answer

A)  Consultand 
B)  Consulband 
C)  Index patient 
D)  Proband

Question 13

Which of the following are found in an individual with aneuploidy?

Accepted Answer

A)  An abnormal number of chromosomes 
B)  An X-linked disorder 
C)  Select cells containing abnormal-appearing chromosomes 
D)  An autosomal recessive disorder

Question 14

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

Accepted Answer

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 female 
D)  Circles are drawn around the male and female

Question 15

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

Accepted Answer

A)  Family history 
B)  Environmental exposures 
C)  Lifestyle and behaviors 
D)  Current medications

Question 16

A woman affected with an X-linked recessive disorder:

Accepted Answer

A)  Has one X chromosome affected by the mutation 
B)  Will transmit the disorder to all of her children 
C)  Will transmit the disorder to all of her sons 
D)  Will not transmit the mutation to any of her daughters

Question 17

To illustrate a union between two second cousin family members in a pedigree:

Accepted Answer

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 female 
D)  Circles are drawn around the male and female

Question 18

In creating your female patient's pedigree, you note that she and both of her sisters were affected by the same genetic disorder. Although neither of her parents had indications of the disorder, her paternal grandmother and her paternal grandmother's two sisters were affected by the same condition. This pattern suggests:

Accepted Answer

A)  Autosomal dominant disorder 
B)  Chromosomal disorder 
C)  Mitochondrial DNA disorder 
D)  X-linked dominant disorder

Question 19

Which population is at highest risk for the occurrence of aneuploidy in offspring?

Accepted Answer

A)  Mothers younger than age 18 
B)  Fathers younger than age 18 
C)  Mothers older than age 35 
D)  Fathers older than age 35

Question 20

According to the Genetic Information Nondiscrimination Act (GINA):

Accepted Answer

A)  Nurse practitioners (NPs) should keep all genetic information of patients confidential. 
B)  NPs must obtain informed consent prior to genetic testing of all patients. 
C)  Employers cannot inquire about an employee's genetic information. 
D)  All of the above

Exam 2: Genomic Assessment: Interpreting Findings and Formulating Differential Diagnosis