Deck 2: An Overview of Genetic Assessment

Question 1

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

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

Answer 1

Family history

Question 2

In autosomal recessive (AR)disorders,individuals need:

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

Answer 2

Two mutated genes to acquire the disease

Question 3

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

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

Answer 3

Double horizontal lines between the male and female

Question 4

A woman affected with an X-linked recessive disorder:

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 5

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

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

Question 6

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

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

Question 7

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

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

Question 8

According to the Genetic Information Nondiscrimination Act (GINA):

A) 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

Question 9

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

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

Question 10

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):

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

Question 11

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

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 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):

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

Question 13

In autosomal recessive disorders,carriers have:

A) Two mutated genes;one from each parent that cause 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 14

A woman with an X-linked dominant disorder will:

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

Question 15

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

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

Question 16

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

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

Question 17

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

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

Question 18

An autosomal dominant disorder involves the:

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

Question 19

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:

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

Question 20

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

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 21

Your 2-year-old patient shows facial features,such as epicanthal folds,up-slanted palpebral fissures,single transverse palmar crease,and a low nasal bridge.These are referred to as:

A) Variable expressivity related to inherited disease
B) Dysmorphic features related to genetic disease
C) De novo mutations of genetic disease
D) Different penetrant signs of genetic disease

Question 22

In order to provide a comprehensive genetic history of a patient,the NP should:

A) Ask patients to complete a family history worksheet
B) Seek out pathology reports related to the patient's disorder
C) Interview family members regarding genetic disorders
D) All of the above