Question 1

Which of the following best describes a genotype?

Accepted Answer

The genetic makeup of an organism

Question 2

A child is born with Tay-Sachs disease. Which inheritance pattern does this disorder follow?

Accepted Answer

Autosomal recessive

Question 3

Which of the following is most likely to result from a mutation in mitochondrial DNA?

Accepted Answer

Neuromuscular disorders due to impaired cellular energy production

Question 4

A woman who is a carrier for Fragile X syndrome (X	extsuperscript{F}X) has a child with a man who does not carry the mutation (XY). What is the probability that their son will be affected by Fragile X syndrome?

Accepted Answer

$$25\%$$

Question 5

Which of the following is NOT a characteristic of multifactorial inheritance disorders?

Accepted Answer

Always caused by a single gene mutation

Question 6

Which teratogenic agent is most likely to cause fetal alcohol syndrome?

Accepted Answer

Alcohol

Question 7

A newborn is found to have phenylketonuria (PKU). What is the underlying biochemical defect?

Accepted Answer

Deficiency of the enzyme phenylalanine hydroxylase

Question 8

Which chromosomal disorder is characterized by the presence of an extra chromosome 21?

Accepted Answer

Down syndrome

Question 9

Which of the following is a common result of chromosomal disorders?

Accepted Answer

Early gestational loss

Question 10

A child is born with cleft lip and congenital heart disease. Which inheritance pattern is most likely responsible?

Accepted Answer

Multifactorial inheritance

Question 11

Which of the following is a key component of a genetic assessment?

Accepted Answer

Assessment of genetic risk and prognosis

Question 12

Which method is commonly used for fetal diagnosis of genetic disorders?

Accepted Answer

Amniocentesis

Question 13

Which of the following is a result of a single-gene disorder?

Accepted Answer

Alterations in nonenzyme proteins

Question 14

A child with Marfan syndrome is found to have a mutation in a gene on an autosome. What is the pattern of inheritance?

Accepted Answer

Autosomal dominant

Question 15

Which of the following is most likely to occur if a pregnant woman uses cocaine?

Accepted Answer

Fetal vasoconstriction

Question 16

Which equation best represents the probability of a child inheriting an affected X chromosome from a carrier mother and unaffected father in Fragile X syndrome?

Accepted Answer

$$P = 0.5$$

Question 17

Which of the following is NOT a teratogenic agent?

Accepted Answer

Vitamin C supplementation

Question 18

Which syndrome is associated with monosomy X?

Accepted Answer

Turner syndrome

Question 19

Which of the following is a criterion for defining fetal alcohol syndrome?

Accepted Answer

Short palpebral fissures

Question 20

Which infectious agent is included in the TORCH group and can cause congenital abnormalities if contracted during pregnancy?

Accepted Answer

Toxoplasmosis

patho 5

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