Question 1

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

Accepted Answer

Family history is the most important factor to consider when assessing a patient's genetic risk for disease. It can provide valuable information about inherited conditions and help identify individuals who may benefit from genetic testing or surveillance. While environmental exposures, lifestyle and behaviors, and current medications may also be important factors to consider, they are typically assessed after family history to get a fuller picture of the patient's health status.

Question 2

In autosomal recessive (AR)disorders,individuals need:

Accepted Answer

For autosomal recessive disorders, an individual would need to inherit two copies of the mutated gene, one from each parent, to acquire the disease. Therefore, choice C "Two mutated genes to acquire the disease" is the correct answer. Choice B "Only one mutated gene to acquire the disease" is incorrect as it describes autosomal dominant disorders, where only one mutated gene is needed. Choice A "Only one mutated gene on the sex chromosomes to acquire the disease" is incorrect as it describes sex-linked genetic disorders, which are not autosomal. Choice D "Two mutated genes to become carriers" is incorrect as carriers of AR disorders only have one copy of the mutated gene, and therefore do not have the disease.

Question 3

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

Accepted Answer

Double horizontal lines between the male and female are typically used in a pedigree to indicate a union between two individuals, regardless of their degree of relatedness. It is the most appropriate option for illustrating a union between two second cousin family members in a pedigree. Arrows, brackets, and circles are used to indicate different relationships or conditions in a pedigree.

Question 4

A woman affected with an X-linked recessive disorder:

Accepted Answer

A woman affected by an X-linked recessive disorder must have both of her X chromosomes carrying the mutation (since females have two X chromosomes and she is affected), meaning she can pass the mutation to her sons (who receive one of her X chromosomes). Daughters, however, will receive one mutated X from her and one normal X from their father, making them carriers but not necessarily affected.

Question 5

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

Accepted Answer

Penetrance refers to the proportion of individuals with a particular genetic mutation who exhibit clinical symptoms of the associated disorder. In cases where patients express variable forms of the same hereditary disorder, it is likely due to incomplete penetrance, meaning not all individuals with the mutation will exhibit the same symptoms.

Question 6

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

Accepted Answer

Aneuploidy refers to an abnormal number of chromosomes, either too many or too few. It can result from errors in meiosis during gamete formation, such as non-disjunction or chromosomal breakage and rearrangement. Aneuploidy can lead to various disorders and health problems, depending on which chromosomes are affected and how many copies are present. It can also affect the expression and regulation of genes located on the affected chromosomes. X-linked disorders and autosomal recessive disorders are different types of genetic disorders that are not necessarily associated with aneuploidy, although they can coexist or interact with each other in certain cases. Select cells containing abnormal-appearing chromosomes can be a diagnostic or screening method for aneuploidy or other chromosomal abnormalities, such as karyotyping or cytogenetics.

Question 7

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

Accepted Answer

Autosomal dominant disorders typically show vertical transmission, meaning they are passed down from one generation to the next. As a result, it is common to see several generations of affected members in the pedigree.

Question 8

According to the Genetic Information Nondiscrimination Act (GINA):

Accepted Answer

GINA prohibits discrimination on the basis of genetic information in health insurance and employment. NPs should keep all genetic information of patients confidential and must obtain informed consent prior to genetic testing of all patients. Employers cannot inquire about an employee's genetic information. Therefore, all of the above choices are correct.

Question 9

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

Accepted Answer

The leading causes of death in the United States, such as heart disease, cancer, respiratory disease, and stroke, are complex and multifactorial in nature, with contributions from both genetic and environmental factors. Single gene mutations, X-linked disorders, and aneuploidy are responsible for specific genetic diseases but are not the leading causes of death in the general population.

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):

Accepted Answer

If both parents are carriers of an autosomal recessive disorder, each child has a 25% chance of being affected by the disease, a 50% chance of being a carrier, and a 25% chance of being disease-free.

Question 11

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

Accepted Answer

Myocardial infarction in a family member at a young age is a red flag as it indicates potential genetic risk factors for cardiovascular disease. The other options are less concerning as they are either common with age or occur in a different system of the body.

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

An affected individual who manifests symptoms of a particular condition through whom a family with a genetic disorder is ascertained is called a proband. The other options are not applicable or do not accurately describe the situation described in the question.

Question 13

In autosomal recessive disorders,carriers have:

Accepted Answer

Carriers of autosomal recessive disorders have one copy of the mutated gene but do not exhibit symptoms of the disease because they also have one normal copy of the gene.

Question 14

A woman with an X-linked dominant disorder will:

Accepted Answer

An X-linked dominant disorder is a genetic condition caused by mutations in the genes on the X chromosome, which means that females are more likely to be affected by it. In this case, a woman with an X-linked dominant disorder will have a 50 % chance of transmitting the disorder to each of her offspring, regardless of their sex. Therefore, the correct answer is B.

Question 15

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

Accepted Answer

Mitochondrial DNA is inherited exclusively from the mother, which means that all offspring from an affected female will inherit the disease-causing mutation. It is not a sex-linked trait, so it can affect both males and females.

Question 16

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

Accepted Answer

Only about 5% to 10% of cancers are due to a single-gene mutation, while the majority of cancers result from a combination of genetic and environmental factors.

Question 17

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

Accepted Answer

As women age, the risk for chromosome abnormalities in their offspring increases, particularly for Down syndrome. The incidence of chromosomal abnormalities in offspring increases from 1 in 1,600 for a 20-year-old mother to 1 in 100 for a 40-year-old mother. The age of the father also plays a role, but the effect is not as significant as that of the mother. Fathers over age 35 have a slightly increased risk of fathering a child with certain chromosomal abnormalities, such as Down syndrome, than younger fathers.

Question 18

An autosomal dominant disorder involves the:

Accepted Answer

Autosomal dominant disorders are inherited through non-sex chromosomes. This means that they are not linked to the X or Y chromosome, nor are they inherited through mitochondrial DNA.

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:

Accepted Answer

This pattern suggests an X-linked dominant disorder because the disorder is seen in females across generations, and males are not mentioned as being affected. The inheritance pattern skips generations and affects females, which is consistent with X-linked dominant inheritance, where a female with one affected X chromosome can display the disorder.

Question 20

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

Accepted Answer

The answer of To illustrate two family members in an...

Quiz 2: An Overview of Genetic Assessment