Exam 2: Genes and Genetic Diseases

A patient, age 9, is admitted to a pediatric unit with Duchenne muscular dystrophy. When planning care, the nurse recalls that the patient inherited this condition through a trait that is:

The base components of DNA are:

A 50-year-old male was recently diagnosed with Huntington's disease. What is a key feature of this condition?

What is needed for a polygenic trait to be expressed?

The condition in which an extra portion of a chromosome is present in each cell is called:

What is the most common cause of Down syndrome?

A DNA strand has a region with the sequence ATCGGAT. Which of the following would be a complementary strand?

What type of mutation does not change the amino acid sequence and thus has no observable consequence?

A 13-year-old girl has a karyotype that reveals an absent homologous X chromosome with only a single X chromosome present. What medical diagnosis will the nurse observe on the chart?

A nurse is reviewing the pedigree chart. When checking for a proband, what is the nurse looking for?

A patient demonstrates severe intellectual disability caused by a deletion of part of chromosome 5. What genetic disorder will the nurse see documented in the chart?

A cell that does not contain a multiple of 23 chromosomes is called a _____ cell.

Which one of the following disorders is manifested primarily in males?

The gradual increase in height among the human population over the past 100 years is an example of:

A 13-year-old female has a karyotype that reveals an absent homologous X chromosome with only a single X chromosome present. Her features include a short stature, widely spaced nipples, and a reduced carrying angle at the elbow. What is her diagnosis?

What genetic disorder is the result if an individual possesses an XXY chromosome configuration?

When discussing DNA replication, which enzyme is most important?

Which of the following mutations have the most significant effect on protein synthesis?

A 20-year-old pregnant female gives birth to a stillborn child. Autopsy reveals that the fetus has 92 chromosomes. What term may be on the autopsy report to describe this condition?

A 15-year-old female is diagnosed with Prader-Willi syndrome. What is this condition an example of?