Deck 3: Genetic Basis of Disease

Question 1

A 19-year-old male client presents with rheumatoid arthritis.The client has a tall,lanky body,sparse facial hair.He complains of decreased physical endurance.How could a diagnosis of Klinefelter syndrome be confirmed in the client?
1)Confirm absence of pubertal changes
2)Evaluate muscle weakness
3)Assess distribution of adipose tissue
4)Perform genetic testing and hormone analysis

Answer 1

4

Question 2

Which is a test primarily used to diagnose fetal chromosome problems?
1)Cordocentesis
2)Amniocentesis
3)Maternal serum screening
4)Chorionic villus sampling

Answer 2

2

Question 3

A karyotype is the overall picture of
1)all the chromosomal pairs in an individual.
2)all the chromosomal pairs of a species.
3)all the normal chromosomal pairs in an individual.
4)all the abnormal chromosomal pairs in an individual.

Answer 3

1

Question 4

What defines translation in protein synthesis?
1)Process of RNA synthesis
2)Process of DNA synthesis
3)Process of ribosome formation
4)Process of protein synthesis from RNA

Question 5

A client presents with lethargy and muscle flaccidity.The client's family members report cognitive impairment in the client.What finding would the nurse look for if Tay Sachs disease is suspected?
1)Cherry-red spot on the retina on ophthalmologic examination
2)Epicanthic folds around the eyes
3)Flapping of eyes
4)Light-colored ring in the iris of the eye

Question 6

Similar to sickle cell anemia,which other genetic disorder offers protection against malaria?
1)Turner syndrome
2)G6PD deficiency
3)Wilson disease
4)Tay Sachs disease

Question 7

What is a characteristic clinical manifestation of Wilson disease?
1)Tremor
2)Excessive salivation
3)Difficulty in speaking
4)Corneal Kayser-Fleischer rings

Question 8

A client presents with thrombocytopenia and bony fractures.A scan reveals splenomegaly.How would a diagnosis of Gaucher disease be made in the client?
1)Presence of mutation in gene that codes for glucocerebrosidase
2)Cellular analysis
3)Predisposition to bone fractures
4)Presence of splenomegaly

Question 9

An adult client is diagnosed with Marfan syndrome after presenting with joint pain and weakness or numbness in the legs.What other clinical finding would be a treatment priority for this client?
1)Scoliosis
2)Pneumothorax
3)Pectus excavatum
4)Heart valve problems

Question 10

Familial hypercholesterolemia is a genetic disorder characterized by high cholesterol level.Which statement is true regarding the condition?
1)Children are at the risk for early acute myocardial infarction.
2)Untreated men develop symptoms by the fifth decade of life.
3)Untreated women develop symptoms by the fourth decade of life.
4)Homozygous familial hypercholesterolemia is less severe than the heterozygous form.

Question 11

A client,an Ashkenazi Jew,presents with complaints of fever and lymphadenopathy.The client also has a protuberant abdomen.What finding would lead to a diagnosis of Niemann Pick disease?
1)Massive enlargement of spleen
2)Generalized lymphadenopathy
3)Gastrointestinal problems and fever
4)Biochemical assay

Question 12

A client presents with less strength,high elastic skin,and joints that are hypermobile.Which condition can be diagnosed in the client based on these characteristics?
1)Down syndrome
2)Turner syndrome
3)Klinefelter syndrome
4)Ehlers-Danlos syndrome

Question 13

What aspects of polymerase chain reaction make it so useful in research? Select all that apply.
1)Requires mitotic cells
2)Used for diagnostic testing
3)Used for genetic analysis in cancer
4)Can be applied to a very small sample of DNA
5)Reduces the segment for further study in the laboratory

Question 14

A client presents to the hospital with difficulty in speaking,excessive salivation,and ataxia.What finding would lead to a diagnosis of Wilson disease?
1)Hepatic dysfunction
2)Grand mal seizures
3)Skeletal rigidity
4)Psychiatric symptoms

Question 15

Which is an inherited connective-tissue disorder?
1)Marfan syndrome
2)Neurofibromatosis
3)Familial hypercholesterolemia
4)Familial adenomatous polyposis