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Genetic Diseases and Disorders Answers

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.:karyotyping
are abnormal or unusual differences in one or more of a person’s genes.:Mutations
disorders can affect both sexes, but are much more common in males and rare in females.:X-linked
4

Choose the word or phrase that best completes each sentence. Genes are passed down, or ✔ inheritedgiftedmutated, from a person’s parents.

Answers:
, from a person’s parents.:inherited
contains each gene’s instructions.:DNA
.:autosomes
5

Choose the word or phrase that best completes each sentence. In autosomal recessive ✔ autosomal dominantmitochondrial inheritance, a person only needs one copy of a gene to inherit a disorder.

Answers:
inheritance, a person only needs one copy of a gene to inherit a disorder.:autosomal dominant
inheritance, a person receives one copy of the affected gene from each parent, and inherits the disorder because both of their copies of the gene are affected.:autosomal recessive
inheritance, people receive a direct copy of genetic material from their mothers.:mitochondrial
7

The study of disease is called:

A
medicine.
B
pathology.
C
diseaseology.
D
karyotyping.
8

Select all that apply.What is true about Down syndrome?

A
It occurs when a person has three copies of the 21st chromosome.
B
It occurs when a person has one copy of the 21st chromosome.
C
It occurs more frequently in males than in females.
D
People with Down syndrome have specific facial features.
9

Which of the following is true about Turner syndrome?

A
It occurs when a male has three copies of the X chromosome.
B
It occurs when a female has one copy of the X chromosome.
C
It occurs when a female has two copies of the X chromosome.
D
It occurs when a male has two copies of the Y chromosome.
11

Select all that apply.Which of the following statements are true about hemophilia?

A
It is an example of an autosomal dominant disorder.
B
It is an example of an autosomal recessive disorder.
C
It is an example of a sex-linked disorder.
D
It involves a protein inside the red blood cells.
E
It is a disease in which a person has trouble stopping bleeding.
12

Select all that apply.Which of the following statements are true about the genetic disease phenylketonuria?

A
It is not tested for until a person has symptoms later in life.
B
Untreated phenylketonuria can lead to brain damage.
C
Phenylketonuria is effectively treated with gene therapy.
D
It requires lifelong treatment.
E
Prenatal surgery is used to treat it.
13

Karyotyping is used to:

A
study chromosomes.
B
treat Down syndrome.
C
repair chromosomes.
D
diagnose genetic diseases.
14

Pathology requires determining:

A
how a person is cured from a disease.
B
the signs and symptoms of a disease.
C
a person’s diet.
D
how DNA is found in the body.
17

What is the word that means “before a baby is born”?

A
preventive
B
postnatal
C
prenatal
D
perinatal
18

During gene therapy, the genes that are thought to be the cause of a genetic disease or disorder are:

A
found with the help of special computer programs.
B
replaced with new genes that are free from those conditions.
C
treated with B vitamins.
D
addressed through the process of blood transfusions.
19

Knowledge of the pathology of spina bifida has helped:

A
more people prevent the disorder by getting enough vitamins.
B
more people receive surgery for the disorder.
C
people with the disorder receive care for heart disorders.
D
researchers study X-linked disorders.

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