Exam 2: Genes and Genetic Diseases

What is the diagnosis of a 13-year-old female who 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.

The base components of DNA are:

A biologist is explaining how RNA directs the synthesis of protein.Which process is the biologist describing?

Cystic fibrosis is caused by what gene abnormality?

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

A child is diagnosed with cystic fibrosis.History reveals that the child's parents are siblings.Cystic fibrosis was most likely the result of:

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

An aide asks the nurse why people who have neurofibromatosis will show varying degrees of the disease.Which genetic principle should the nurse explain to the aide?

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

After a geneticist talks to a patient about being a chromosomal mosaic, the patient asks the nurse what that means.How should the nurse respond? You may _____ genetic disease(s).

A 50-year-old male was recently diagnosed with Huntington disease.Transmission of this disease is associated with:

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

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

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

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

A 15-year-old female is diagnosed with Prader-Willi syndrome.This condition is an example of:

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

Which of the following disorders is manifested primarily in males?

The regions of the heterogeneous nuclear RNA that must be spliced out to form functional RNA are called:

A patient wants to know the risk factors for Down syndrome.What is the nurse's best response?