Common Childhood-onset Genetic Disorders

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Question 1

Free

Multiple Choice

Which ethnic group has the highest incidence of sickle cell disease (SCD)?

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Ashkenazi Jews

Asian Americans

African Americans

French Canadians from Quebec

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Question 2

Free

Multiple Choice

Which type of testing is most commonly used to diagnose sickle cell disease?

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Hematocrit and hemoglobin levels

Hemoglobin electrophoresis

Genetic mutation analysis

Sweat chloride analysis

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Question 3

Free

Multiple Choice

Which specific type of genetic problem causes sickle cell disease?

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Deletion of an exon

Deletion of an intron

Unbalanced translocation

Single-nucleotide polymorphism

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Question 4

Free

Multiple Choice

How is sickle cell trait different from sickle cell disease?

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People with sickle cell disease are homologous for the mutation, whereas those with sickle cell trait are heterozygous for the mutation.

People with sickle cell trait are homologous for the mutation, whereas those with sickle cell disease are heterozygous for the mutation.

Sickle cell disease results from an inherited mutation, and sickle cell trait results from an acquired mutation.

Sickle cell trait results from an inherited mutation, and sickle cell disease results from an acquired mutation.

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Question 5

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Multiple Choice

Which feature or factor is the best predictor for delay of complications in a person who has sickle cell disease (SCD)?

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Male gender

20% or greater of HbF

Having survived malaria

Living in a geographic area that has cold winters

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Question 6

Multiple Choice

How does the drug Endari reduce the manifestations of sickle cell disease?

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Promoting faster red blood cell production

Increasing the concentration of fetal hemoglobin (HbF)

Reducing oxidate stress and increasing the life span of red blood cells

Correcting the mutation of one allele so that the person has sickle cell trait instead of sickle cell disease

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Question 7

Multiple Choice

What health advantage does sickle cell trait or disease confer on the person who has it?

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Decreased risk for type 1 diabetes mellitus

Decreased risk for hypercholesterolemia

Decreased risk for fulminating cholera

Decreased risk for malaria

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Question 8

Multiple Choice

Awoman whose hemoglobin S levels are less than 1% has a brother with sickle cell disease, and both parents have been diagnosed as carriers for the disorder. She asks what her risks are of having a child with sickle cell disease. What is the best response?

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"Because you do not have the trait, you cannot have a child with sickle cell disease regardless of your partner's sickle cell status."

"Because both your parents have the trait, it is possible for you to have a child with sickle cell disease if your partner actually has the disease."

"Because your brother actually has sickle cell disease, the risk for your children having sickle cell disease is 50% with each pregnancy."

"Because you are a woman, your daughters will each have a 50% risk for having the disease, and all of your sons will be carriers of the trait."

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Question 9

Multiple Choice

Which ethnic group has the highest incidence of cystic fibrosis (CF)?

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Asian Americans

African Americans

Hispanic Americans

European Americans

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Question 10

Multiple Choice

Which type of testing is most commonly used to diagnose cystic fibrosis (CF)?

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Mucus protein electrophoresis

Genetic mutation analysis

Sweat chloride analysis

Stool analysis

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Question 11

Multiple Choice

Which relative of a patient who has cystic fibrosis has the correct risk for being a cystic fibrosis carrier?

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Sister 0%

Mother 50%

Father 100%

Brother 100%

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Question 12

Multiple Choice

Which tissues are most commonly affected by mutation of the CFTR gene?

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Eyes and ears

Brain and intestines

Lungs and pancreas

Kidneys and long bones

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Question 13

Multiple Choice

What is the most likely explanation for the variability in expression of disease severity for cystic fibrosis?

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The ethnicity of the patient

The specific CFTR gene mutation inherited

The presence of other nongenetic lung or pancreatic problems

The length of trinucleotide repeat sequences in the first exon of the CFTR gene

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Question 14

Multiple Choice

What health advantage does cystic fibrosis confer on the person who has it?

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Decreased risk for type 1 diabetes mellitus

Decreased risk for tuberculosis

Decreased risk for anemia

Decreased risk for typhoid

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Question 15

Multiple Choice

Which statement regarding Duchenne muscular dystrophy (DMD) is true?

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Females are not affected.

Because DMD is X-linked recessive, females are affected, and males are carriers.

Because DMD is X-linked recessive, males are affected, and females are carriers.

The sons of women who are older than age 40 when pregnant are at an increased risk for DMD.

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Question 16

Multiple Choice

Why does Duchenne muscular dystrophy (DMD) have poor reproductive fitness?

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Most affected individuals typically do not have children.

Fifty percent of mutations of the dystrophin gene are deletions.

The loss of functional adhesion proteins prevents reproduction.

The expression of disease severity is highly variable among adults

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Question 17

Multiple Choice

What is the explanation for creatine kinase (CK) levels in a 14-year-old boy with Duchenne muscular dystrophy being much lower now than they were 5 years ago?

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His disease is improving.

He now performs passive rather than active exercise.

Most of the muscle tissue has already been destroyed.

The disease is probably Becker muscular dystrophy (BMD) rather than Duchenne muscular dystrophy.

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Question 18

Multiple Choice

Which additional health problem commonly develops in boys with Duchenne muscular dystrophy?

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Arthritis

Hypertension

Diabetes mellitus

Chronic heart failure

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Question 19

Multiple Choice

A 21-year-old woman who has two brothers with Duchenne muscular dystrophy asks whether carrier status testing is appropriate for her. What is the best response?

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"Testing could be beneficial because your risk for being a carrier is nearly 100%."

"Testing could be beneficial because your risk for being a carrier is approximately 50%.

"Testing is not necessary because you would have expressed some symptoms of the disease by this time if you were a carrier."

"Testing is not necessary because the spontaneous mutation rate for this genetic problem is high and likely to be why your brothers have the disease."

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Question 20

Multiple Choice

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).Whichexplanation regarding Zoe's situation is most likely?

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Zoe is a heterozygote showing partial expression

Zoe and her cousins shared similar environmental risks.

The muscle weakness is related to Zoe's lack of exercise in her "girly-girl" lifestyle.

Zoe is homozygous for DMD, with a defective dystrophin gene inherited from both parents.

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