Deck 3: Genetic Basis of Disease

Question 1

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

Answer 1

4

Question 2

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.

Answer 2

1

Question 3

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

Answer 3

4

Question 4

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 5

Chorionic villus sampling is performed during pregnancy. What are the characteristics of chorionic villus sampling?
1) Performed after 10 weeks of pregnancy
2) Offered if an inherited genetic problem is identified
3) Used to diagnose 99% of fetal chromosome abnormalities
4) Offered when a woman is at a maternal age below 35 years at the time of delivery
5) Used to diagnose chromosome abnormalities and some inherited disorders

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

Marfan syndrome is an inherited connective tissue disorder. What are the signs and symptoms that can lead a physician to diagnose a client with Marfan syndrome?
1) Short stature
2) Low back pain
3) Visual problems
4) Burning sensation
5) Ligament hypermobility

Question 8

What aspects of polymerase chain reaction make it so useful in research?
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 9

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.

Question 10

Amniocentesis is a medical procedure that can give physicians essential information about the fetus. Which statements are true regarding amniocentesis?
1) It is used to detect abnormalities by removing a large amount of amniotic fluid.
2) It is used to diagnose fetal chromosome problems.
3) It is used to study the fetal chromosomes.
4) It is performed on the amniotic fluid before 16 weeks of pregnancy.
5) It is used to detect fetal disorders by inserting a thin needle through the mother's abdomen into the amniotic sac.

Question 11

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

Question 12

Gene therapy is an experimental technique that uses genes to treat or prevent disease. What are some of the characteristics of gene therapy?
1) Insertion of a normal gene
2) Used to treat or prevent any disease
3) Used to treat a disorder using drugs or surgery
4) Insertion of a 47th artificial chromosome into the target cells
5) Insertion of the artificial chromosome would affect the function of the standard 46 chromosomes

Question 13

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

Question 14

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

Question 15

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 16

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 17

Prenatal diagnosis is testing for disease or conditions in a fetus. Which statements are true regarding prenatal diagnoses?
1) Prenatal sex discernment
2) Early detection of birth defects
3) Genetic problems are unidentified
4) Identify disorders such as neural tube defects and Down syndrome
5) Testing procedures exclude amniocentesis and percutaneous umbilical cord blood sampling.

Question 18

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

Question 19

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 20

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 21

A five-year-old child presents with inguinal freckling and bowed legs. What clinical criteria can be used to further confirm the diagnosis of neurofibromatosis?
1) Optic nerve tumor
2) Long-bone abnormalities
3) Two or less tumors in the iris
4) Two or less café-au-lait spots
5) Irregularly shaped raised lesions appear over time in older children

Question 22

A client presents with excessive salivation and hepatic dysfunction. A diagnosis of Wilson disease is made through liver biopsy and urine copper levels. What are the treatment options available for the client?
1) Antibiotics
2) Preventive vaccines
3) Chelating agents
4) Liver transplant
5) Antivirals

Question 23

Which are lysosomal storage diseases?
1) Tay Sachs disease
2) Niemann-Pick disease
3) Gaucher disease
4) Wilson disease
5) Klinefelter syndrome

Question 24

How is Gaucher disease treated?
1) Bone marrow transplantation
2) Genetic testing and counseling
3) Enzyme replacement therapy
4) Antibiotics
5) Vaccine

Question 25

Which clinical manifestations are associated with Ehlers-Danlos syndrome?
1) Skin is less elastic
2) Joints are hypermobile
3) Easy bruising and poor wound healing
4) Treatment includes high dose of vitamin C
5) Caused by abnormalities in the synthesis of collagen