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Exam 3: Genetic Basis of Disease

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Question 1

Multiple Choice

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During fertilization each parent contributes to the DNA being passed on to the offspring. Which genetic expression in the offspring is validation of the genetic contribution by a parent?

A) Hair color of the offspring
B) Eye color of the offspring
C) The sex of the offspring
D) The most dominant parent

E) A) and D)
F) A) and C)

Correct Answer

verified

C

Question 2

Multiple Choice

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Marfan's syndrome is an inherited connective tissue disorder. Which signs and symptoms can lead a physician to diagnose a client with Marfan's syndrome? Select all that apply.

A) Short stature
B) Low back pain
C) Visual problems
D) Burning sensation
E) Ligament hypomobility

F) B) and C)
G) All of the above

Correct Answer

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B,C,D

Question 3

Multiple Choice

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Which aspects of polymerase chain reaction make it so useful in research? Select all that apply.

Which defines translation in protein synthesis?

The human genome is estimated to be composed of between 20,000 and 25,000 genes and has a specific arrangement of nucleotide bases, which carry a code for constructing proteins. Which additional characteristic is present in genes?

Chorionic villus sampling is performed during pregnancy. Which are the characteristics of chorionic villus sampling? Select all that apply.

A young adult male client presents with rheumatoid arthritis. The client has a tall, lanky body and sparse facial hair. The client reports decreased physical endurance. Which assessment will confirm a diagnosis of Klinefelter syndrome in the client?

A client presents with excessive salivation and hepatic dysfunction. A diagnosis of Wilson disease is made through liver biopsy and urine copper levels. Which treatment options are available for the client? Select all that apply.

A client presents to the hospital with difficulty in speaking, excessive salivation, and ataxia. Which additional finding supports a diagnosis of Wilson disease?

Amniocentesis is a medical procedure that can give physicians essential information about the fetus. Which statements are true regarding amniocentesis? Select all that apply.

A couple is planning to become pregnant. The nurse obtains a detailed family history and notes several conditions that may be genetically connected. Which genetic assessment does the nurse expect to be prescribed prior to pregnancy?

A preschool client is noted by the nurse to have inguinal freckling and bowed legs. Which additional assessment findings further confirm the nurse's suspected diagnosis of neurofibromatosis? Select all that apply.

Prenatal diagnosis is testing for disease or conditions in a fetus. Which statements are true regarding prenatal diagnoses? Select all that apply.

Genomics is the study of the interactions of all the nucleotide sequences within an organism. Which statement regarding genomics is correct?

A client presents with lethargy and muscle flaccidity. The client's family members report cognitive impairment in the client. Which finding does the nurse look for if Tay-Sachs disease is suspected?

Gene therapy is an experimental technique that uses genes to treat or prevent disease. Which are some of the characteristics of gene therapy? Select all that apply.

Which definition applies to the term karyotype?

A newborn exhibits the manifestations of a genetic disorder. A five-generation family history of each parent does not indicate the presence of the disorder. Which type of mutation does the nurse recognize?

Which clinical manifestations are associated with Ehlers-Danlos syndrome? Select all that apply.

A young adult client is diagnosed with a heart murmur from aortic regurgitation and mitral prolapse. The client is tall in stature with elongated arms and fingers. Family history reveals that multiple family members died between the ages of 35 and 40 years. Which inherited disorder does the nurse suspect?