Exam 2: An Overview of Genetic Assessment

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):

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

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

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:

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

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:

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

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

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

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

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

According to the Genetic Information Nondiscrimination Act (GINA):

An autosomal dominant disorder involves the:

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

In autosomal recessive disorders,carriers have:

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

A woman with an X-linked dominant disorder will:

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

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

In autosomal recessive (AR)disorders,individuals need: