Deck 3: Genetic Basis of Disease

Question 1

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

Answer 1

1, 2, 3

Question 2

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?
1)Marfan's syndrome
2)Neurofibromatosis
3)Familial hypercholesterolemia
4)Familial adenomatous polyposis

Answer 2

1

Question 3

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

Answer 3

1

Question 4

A client of Ashkenazi Jewish heritage presents with a fever and painful lymph nodes in the neck. The nurse's physical assessment also indicates a protuberant abdomen. Which additional assessment finding supports a diagnosis of Niemann-Pick disease?
1)Massive enlargement of spleen
2)Generalized lymphadenopathy
3)Gastrointestinal problems and fever
4)Biochemical assay

Question 5

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?
1)Hair color of the offspring
2)Eye color of the offspring
3)The sex of the offspring
4)The most dominant parent

Question 6

Prenatal diagnosis is testing for disease or conditions in a fetus. Which statements are true regarding prenatal diagnoses? Select all that apply.
1)Prenatal sex discernment
2)Birth defects can be detected early
3)Genetic problems are commonly unidentified
4)Neural tube defects and Down syndrome identification
5)Amniocentesis and percutaneous umbilical cord blood sampling are omitted

Question 7

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?
1)Cherry-red spot on the retina on ophthalmological examination
2)Epicanthic folds around the eyes
3)Flapping of hands and poor eye contact
4)Light-colored ring in the iris of the eye

Question 8

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?
1)Southern blotting
2)Karyotyping
3)Polymerase chain reaction
4)Fluorescence in situ hybridization

Question 9

Which 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 10

Genomics is the study of the interactions of all the nucleotide sequences within an organism. Which statement regarding genomics is correct?
1)Genomics is about the expression of genes
2)DNA is a single structure that can be broken down
3)Genomics recognizes genes as the basic units of heredity
4)The nitrogen base in RNA is thymine instead of uracil

Question 11

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.
1)Antibiotics
2)Preventive vaccines
3)Chelating agents
4)Liver transplant
5)Antivirals

Question 12

Which methods are used to treat Gaucher disease? Select all that apply.
1)Bone marrow transplantation
2)Genetic testing and counseling
3)Enzyme replacement therapy
4)Antibiotics
5)Vaccine

Question 13

Which clinical manifestations are associated with Ehlers-Danlos syndrome? Select all that apply.
1)Skin is hypoelastic
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

Question 14

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

Question 15

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.
1)Involves the insertion of a normal gene
2)Currently used to treat or prevent many diseases
3)Used to treat a disorder along with drugs or surgery
4)Involves the use of a vector, which is commonly a virus
5)Therapeutic DNA may be transported by an artificial liposome

Question 16

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.
1)Short stature
2)Low back pain
3)Visual problems
4)Burning sensation
5)Ligament hypomobility

Question 17

Chorionic villus sampling is performed during pregnancy. Which are the characteristics of chorionic villus sampling? Select all that apply.
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 18

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?
1)One that changes both the DNA and RNA sequence
2)An alteration that likely occurred spontaneously
3)An undetected genetic defect in one of the parents
4)An undetected defect in an earlier generation

Question 19

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.
1)Optic nerve tumor
2)Long-bone abnormalities
3)Two or fewer tumors in the iris
4)Two or fewer café-au-lait spots
5)Irregularly shaped raised lesions

Question 20

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

Question 21

Which definition applies to the term karyotype?
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 22

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?
1)Confirm absence of pubertal changes
2)Evaluate muscle weakness
3)Assess distribution of adipose tissue
4)Perform genetic testing and hormone analysis

Question 23

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 24

Which 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 25

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?
1)Only about 50% of the genome is known to include the protein-coding sequences
2)Intron sequences provide coding information for protein synthesis
3)Genes have codons that signal when protein production should begin or should stop
4)Up to five bases code for one amino acid, so an average gene can code for 10,000 amino acids