Genetics test 2 practice questions

Why is a pedigree considered an "unstable" product?
A.
The person collecting the information may not be a genetics professional.
B.
Some family members may have lied about their reproductive history.
C.
The memories of older family members may be inaccurate.
D.
The health of living family members continues to evolve.

D

Which issue is considered a "red flag" for the need for referral to a genetics professional?
A.
A family history of both breast and colon cancer
B.
Myocardial infarction in several parents or grandparents older than 64 years of age
C.
The presence of brothers and sisters who do not resemble any known family member
D.
The presence of neurodevelopmental disorders in one or more members of the kindred

D

When constructing a pedigree around a specific health problem, what is the minimal number of generations needed to accurately assess the presence or absence of a genetic factor in disease development?
A.
1
B.
2
C.
3
D.
4

C

Marjory tells a nurse that she has three aunts with cancer. The two on her father's side were diagnosed with breast and ovarian cancers at ages 42 and 36. She also has one aunt on her mother's side who was diagnosed with breast cancer at age 70. Marjory asks if she should have genetic testing. What should the nurse tell her?
A.
"Your family history indicates a high risk and you should definitely have genetic testing."
B.
"Because no men in your family are affected it is not inherited cancer, so you don't need mammograms or any special screening practices."
C.
"Because your aunts were older when they got breast cancer it was probably sporadic and you should just have regular mammograms like everyone else."
D.
"Your family history may indicate an increased risk for breast cancer, and a genetic counselor could help determine whether you could benefit from genetic testing."

D

What term is used to describe the condition of a child who has several dysmorphic features that are related to a single known genetic cause?
A.
Sequence
B.
Disruption
C.
Syndrome
D.
Malformation

C

Which term is used to describe the condition of widely spaced eyes?
A.
Hypertelorism
B.
Hypotelorism
C.
Hyperoculoci
D.
Hypo-oculoci

A

Which characteristic or feature distinguishes a major anomaly from a minor anomaly?
A.
Major anomalies affect tissue structure, and minor anomalies affect tissue function.
B.
Minor anomalies affect tissue structure, and major anomalies affect tissue function.
C.
Minor anomalies occur in external tissues, and major anomalies occur in internal tissues.
D.
Major anomalies require medical attention, whereas minor anomalies are considered a variation in structure.

D

Which condition in a newborn should be described as a deformation if it is the only abnormal finding?
A.
A unilateral club foot
B.
A sealed (imperforate) anus
C.
The absence of a thyroid gland
D.
The presence of six toes on each foot

A

Which anomaly constitutes clinodactyly?
A.
An extra toe on one foot
B.
A laterally curved fifth finger
C.
Complete absence of fingers and toes
D.
Fusion of two fingers on the right hand

B

Which action or behavior is considered an "executive function?"
A.
Hopping on one foot
B.
Learning the names of animals
C.
Deciding what to give as a present
D.
Counting the number of objects in a picture

C

Why is it important to diagnose type I Gaucher disease as soon as possible after birth?
A.
Enzyme therapy can reduce complications for some patients.
B.
When proper dietary management is instituted early, complications can be prevented.
C.
Insulin therapy can result in prevention of the development of type 2 diabetes mellitus.
D.
Prophylactic therapy with antibiotics can prevent early death from pneumonia and other infections.

A

Which common childhood disorder requires a genetic contribution and a significant environmental contribution to develop fully?
A.
Achondroplasia
B.
Sickle cell disease
C.
Type 1 diabetes mellitus
D.
von Willebrand disease

C

Which specific type of genetic problem causes sickle cell disease?
A.
Deletion of an exon
B.
Deletion of an intron
C.
Unbalanced translocation
D.
Single nucleotide polymorphism

D

How does hydroxyurea reduce the manifestations of sickle cell disease?
A.
Promoting red blood cell production
B.
Increasing the concentration of fetal hemoglobin (HbF)
C.
Relaxing vascular smooth muscle so that blood flow to critical tissues and organs is improved
D.
Correcting the mutation of one allele so the person has sickle cell trait instead of sickle cell disease

B

Which additional health problem commonly develops in boys with Duchenne muscular dystrophy?
A.
Arthritis
B.
Hypertension
C.
Diabetes mellitus
D.
Chronic heart failure

D

Zoe, a 20-year-old woman, shows signs of mild muscle weakness. She has two first cousins on her mother's side who died of Duchenne's muscular dystrophy (DMD). Which explanation regarding Zoe's situation is most likely?
A.
Zoe is a heterozygote showing partial expression.
B.
Zoe and her cousins shared similar environmental risks.
C.
The muscle weakness is related to Zoe's lack of exercise in her "girly-girl" lifestyle.
D.
Zoe is homozygous for DMD, with a defective dystrophin gene inherited from both parents.

A

Which statement regarding classic hemophilia is true?
A.
Females are not affected.
B.
Because hemophilia is X-linked recessive, females are affected and males are carriers.
C.
Because hemophilia is X-linked recessive, males are affected and females are carriers.
D.
The sons of women who are older than age 40 when pregnant are at an increased risk for hemophilia.

C

A son with achondroplasia is born to parents with no family history of the disease. What is the most likely explanation for the son's disorder?
A.
The son is not biologically related to the father.
B.
The son is not biologically related to the mother.
C.
The gamete of one parent had a spontaneous mutation.
D.
The son's DNA underwent a spontaneous mutation during the second trimester of pregnancy.

C

Which phenotypic feature associated with achondroplasia has variable expression?
A.
Disproportionally short extremities
B.
Larger than average head size
C.
Prominent forehead
D.
Hydrocephaly

D

If a man with hereditary hemochromatosis has children with a woman who is a carrier for the disorder, what is the expected risk pattern?
A.
All sons will be affected; all daughters will be carriers.
B.
Daughters have a 50% risk for being affected; all sons will either be affected or carriers.
C.
Each child of either gender has a 50% risk of being a carrier and a 50% risk of having the disease.
D.
Each child of either gender has a 50% risk of being a carrier, a 25% risk of having the disease, and a 25% risk of neither being a carrier nor having the disease.

C

What factors increase the clinical severity of alpha-1 antitrypsin (ATT) deficiency?
1. Whether or not the person smokes
2. Whether or not the person uses alcohol
3. The severity of disease in affected relatives
4. The specific alleles of the genes inherited
A.
1 and 4
B.
2 and 3
C.
2 and 4
D.
4 only

A

Which genetic disorder is associated with an increased risk for type 2 diabetes?
A.
Achondroplasia
B.
Down syndrome
C.
Huntington disease
D.
Hereditary hemochromatosis

B

What is the most accurate classification of the common forms of coronary artery disease and hypertension?
A.
Secondary disorders caused by lifestyle choices
B.
Sequential genetic disorders related to age, ethnicity, and gender
C.
Complex disorders resulting from gene-environment interactions
D.
Primary disorders with an autosomal dominant pattern of inheritance

C

Which physical finding on a 30-year-old man suggests the possibility of familial hypercholesterolemia?
A.
Lipomas
B.
Xanthomas
C.
Osteoarthritis
D.
Hemangiomas

B

Which lethal cardiac arrhythmia can occur as a complication of long QT syndrome?
A.
Atrial node reentry tachycardia
B.
Prolonged atrial fibrillation
C.
Mitral valve prolapse
D.
Torsade de Pointes

D

Which statement regarding the biology of cancer is always true?
A.
Cancer cells arise from normal cells.
B.
Testicular cancer is strongly associated with excessive masturbation.
C.
When cancer cells are exposed to air, their growth rate becomes uncontrolled.
D.
The biggest risk factor for cancer development is having a first-degree relative with cancer.

A

Which cancer type is associated with a 9;22 translocation t(9;22)?
A.
Acute promyelocytic leukemia
B.
Acute lymphocytic leukemia
C.
Chronic lymphocytic leukemia
D.
Chronic myelogenous leukemia

D

By which process does "initiation" assist in cancer development?
A.
Enhancing cell division of cells damaged by a carcinogen
B.
Inflicting mutations at specific sites on the exposed cell's DNA
C.
Increasing the transformed cell's capacity for error-free DNA repair
D.
Making cancer cells appear more normal and escaping immunosurveillance

B

Which type of body tissue has the highest risk for cancer development?
A.
Bone tissue because its absorption of radiation is cumulative
B.
Connective tissue that remains functional throughout life
C.
Brain tissue because it does not respond well to injury
D.
Any tissue that retains the ability to divide

D

How does an acquired mutation in a somatic cell gene leading to cancer development affect a person's ability to pass on a predisposition for that cancer type to his or her children?
A.
The predisposition can only be passed on if the person with the somatic cell mutation is female.
B.
The risk for predisposition is dependent upon which tissue type experienced the somatic mutation.
C.
Multiple somatic mutations are required for passing on a predisposition to cancer development.
D.
There is no risk of passing on a cancer predisposition from a somatic cell mutation.

D