Exam 2: Genes and Genetic Diseases

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

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

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.

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

To express a polygenic trait:

A 12-year-old male is diagnosed with Klinefelter syndrome.His karyotype would reveal which of the following?

A couple has three offspring: one child with an autosomal dominant disease trait and two who are normal.The father is affected by the autosomal dominant disease,but the mother does not have the disease gene.What is the recurrence risk of this autosomal dominant disease for their next child?

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?

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

When the nurse is teaching the staff about X-linked recessive disorders,which information should the nurse include? (Select all that apply.)

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?

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

When discussing DNA replication,which enzyme is most important?

An XXY person asks the nurse what this genetic disorder is called.What is the nurse's best response? This disorder is _____ syndrome.

A nurse recalls the basic components of DNA are:

A 5-year-old male presents with mental retardation and is diagnosed with fragile X syndrome.When the parents ask what caused this,how should the geneticist respond? This was most probably caused from:

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

When a patient asks what causes cystic fibrosis,how should the nurse respond? Cystic fibrosis is caused by an _____ gene.

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