ch 3

Question 1

1. Genetic disorders that involve a single gene trait are characterized by:
   a. multifactorial gene mutations.
   b. chromosome rearrangements.
   c. Mendelian patterns of transmission.
   d. abnormal numbers of chromosomes.

Answer 1

C.

Question 2

In addition to having a 50% chance of inheriting an autosomal dominant disorder from an affected parent, such a disorder is characterized by:

a. aneuploidy of genes in all cells.
b. deficiencies in enzyme synthesis.
c. affected X transmission to daughters.
d. varied gene penetration and expression.

Answer 2

D

Question 3

Autosomal recessive disorders are characterized by:
a. age of onset later in life.
b. abnormal protein structure.
c. inborn errors of metabolism.
d. one in two risk of a carrier child.

Answer 3

C

Question 4

When a male child inherits an X-linked disorder from his heterozygous carrier mother,

a. his sons will be carriers.
b. his father has the disorder.
c. some of his sisters will be carriers.
d. his daughters will have the disorder.

Answer 4

C

Question 5

Multifactorial inheritance disorders, such as cleft palate, are often caused
by _____during fetal development.
a. multiple gene mutations
b. dominant gene expression
c. X-linked crossover problem
d. polyploidy of chromosomes

Answer 5

A

Question 6

The newborn has the distinctive physical features of trisomy 21, Down syndrome, which includes:

a. upward slanting of eyes.
b. large, protruding ears.
c. thin lips and small tongue.
d. long fingers with extra creases.

Answer 6

A

Question 7

Aneuploidy of the X chromosome can result in a monosomy or polysomy disorder. The manifestations of monosomy X, Turner syndrome, differ from polysomy X disorders in numerous ways that include:

a. short-stature female individual..
b. mental retardation.
c. enlarged breasts.
d. early onset puberty.

Answer 7

A

Question 8

A teratogenic environmental agent can cause birth defects when:
a. inherited as a recessive trait.
b. intense exposure occurs at birth.
c. disjunction occurs during meiosis.
d. retained during early pregnancy.

Answer 8

D

Question 9

Fetal alcohol syndrome (FAS) is unlike other teratogens in that the harmful effects on the fetus:

a.directly result in liver damage.
b. extend throughout the pregnancy.
c. is most noticeable in adulthood.
d. cause death in early childhood.

Answer 9

B

Question 10

Prenatal diagnosis methods include the use of ultrasonography for identifying_____abnormalities.

a. cytogenic
b. skeletal
c. chromosomal
d. a-fetoprotein

Answer 10

B

Question 11

A woman who is a carrier for which of the following diseases possesses the greatest likelihood of passing the disease to her future children when heterozygous pairing exists?

a.Phenylketonuria (PKU)
b. Tay-Sachs disease
c. Neurofibromatosis
d. Cystic fibrosis

Answer 11

C

Question 12

Which of the following statements is true of autosomal recessive disorders?

a. Onset is typically late in childhood or early in adulthood.

b. Symptomatology is less uniform than with autosomal dominant disorders.

c. Mitochondrial DNA is normally the site of genetic alteration.

d. Effects are typically the result of alterations in enzyme function.

Answer 12

D

Question 13

The parents of a newborn infant are relieved that their baby was born healthy, with the exception of a cleft lip that will be surgically corrected in 10 or 12 weeks. Which of the nurses following statements to the parents best conveys the probable cause of the infants cleft lip?

a. Though you are both healthy, you likely both carry the gene for a cleft lip.

b. Provided one of you had the gene for a cleft lip, your baby likely faced a 50/50 chance of having one.

c. Your childs cleft lip likely results from the interplay between environment and genes.

d. A cleft lip can sometimes result from taking prescription drugs, even when theyre taken as ordered.

Answer 13

C

Question 14

Which of the following practitioners is most likely to be of assistance in the early care of an infant with a cleft lip?

a. Lactation consultant
b. Respiratory therapist
c. Occupational therapist
d. Social worker

Answer 14

A

Question 15

A 41-year-old woman has made the recent decision to start a family, and is eager to undergo testing to mitigate the possibility of having a child with Down syndrome. Which of the following tests is most likely to provide the data the woman seeks?

a. Genetic testing of the woman
b. Genetic testing of the woman and the father c. Prenatal blood tests
d. Ultrasonography

Answer 15

C

Question 16

Genetic testing has revealed that a male infant has been born with an extra X chromosome. What are the most likely implications of this finding?

a. The child is unlikely to survive infancy

b. The child is likely to have no manifestations of this chromosomal abnormality

c. The child will have significant neurological and cognitive defects

d. The child will be unable to reproduce

Answer 16

B

Question 17

Which of the following variables determine the extent of teratogenic drug effects? Select all that apply.

a. Maternal health history
b. Molecular weight of the drug
c. Stage of pregnancy when the drug was taken d. Duration of drug exposure
e. Fetal blood type

Answer 17

b,c,d

Question 18

A woman who has just learned that she is pregnant for the first time has sought advice from her healthcare provider about the safe use of alcohol during pregnancy. What advice should the clinician provide to the woman?

a. Its likely best to eliminate alcohol from your diet while youre pregnant.

b. Moderation in alcohol use is critical while you are pregnant.

c. You should limit yourself to a maximum of one drink daily while youre pregnant.

d. You should drink no alcohol until you are in your second trimester.

Answer 18

A

Question 19

Which of the following health problems may be identified by a TORCH screening test?

a. Rubella and herpes

b. Tenovaginitis and human papillomavirus

c. Rhinovirus and Ormond disease

d. Chlamydia and rickets

Answer 19

A

Question 20

Ultrasonography is most likely to detect which of the following fetal abnormalities?

a. Neural tube defects
b. Skeletal abnormalities
c. Chromosomal defects
d. Single-gene disorders

Answer 20

B