Test Bank for Pathophysiology 6th Edition By Banasik

Test Bank for Pathophysiology 6th Edition By

Banasik

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ik/

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Chapter 06: Genetic and Developmental Disorders
Banasik: Pathophysiology, 6th Edition

MULTIPLE CHOICE

1. Characteristics of X-linked (sex-linked) recessive disorders include

a. all daughters of affected fathers’ being carriers.
b. boys’ and girls’ being equally affected.
c. the son of a carrier female’s having a 25% chance of being affected.
d. affected fathers’ transmitting the gene to all their sons.
ANS: A
All daughters of affected fathers are carriers. X-linked (sex-linked) disorders affect
primarily males. A carrier female has a 1 in 2 chance of producing an affected son.
Affected fathers transmit the defective gene to none of their sons but to all their
daughters.

2. A fetus is most vulnerable to environmental teratogens during

a. birth.
b. conception.
c. the first trimester.
d. the last trimester.
ANS: C
Between the third and ninth week of gestation, the embryo is very vulnerable to
teratogenesis, with the fourth and fifth week being the time of peak susceptibility. By
birth, fetal development is complete and not vulnerable to environmental teratogens.
Prior to the third week of gestation, either exposure to a teratogen generally damages so
few cells that the embryo develops normally, or spontaneous abortion occurs because of
major cell damage. Fetal insults occurring after the third month are more likely to result
in growth retardation or injury to normally formed organs.

3. Results of biochemical tests indicate an infant has phenylketonuria (PKU). The parents
ask what PKU means. Correct responses would include all the following except PKU
a. is an enzyme deficiency resulting in the inability to metabolize phenylalanine.
b. is an inborn error of metabolism.
c. results from a chromosome abnormality called nondisjunction.
d. is transmitted as an autosomal-recessive disorder.
ANS: C
PKU is not a chromosome abnormality, but instead a single-gene abnormality often
referred to as inborn errors of metabolism. The other answer choices are true statements
regarding PKU.

4. The parents of a child with PKU are concerned about the risk of transmitting the disorder
in future pregnancies. The correct assessment of the risk is
a. each child has a 25% chance of being a carrier.
b. each child has a 25% chance of being affected.
c. since one child is already affected, the next three children will be unaffected.
 d. one cannot predict the risk for future pregnancies.
ANS: B
As an autosomal-recessive disorder, the mating of two carriers (heterozygous) results in
a 1 in 4 chance of producing an affected offspring and a 2 in 4 chance of producing an
offspring who carries the disease. The mating of two carriers (heterozygous) results in a
2 in 4 chance of producing an offspring who carries the disease. The mating of two
carriers (heterozygous) results in a 1 in 4 chance of producing an affected offspring and
a 2 in 4 chance of producing an offspring who carries the disease. One can predict the
risk of future pregnancies.

5. Information parents should be given about the consequences of PKU includes

a. high dietary phenylalanine may help induce enzyme production.
b. PKU is commonly associated with other congenital anomalies.
c. failure to avoid phenylalanine results in progressive mental retardation.
d. mental retardation is inevitable.
ANS: C
Failure to avoid phenylalanine results in progressive mental retardation. Phenylketonuria
(PKU) results from an inability to metabolize the amino acid phenylalanine because of
lack of the enzyme phenylalanine hydroxylase. Intake of phenylalanine will not help
induce enzyme production. This disorder is not necessarily associated with other
congenital anomalies. Mental retardation can be prevented or lessened with avoidance of
phenylalanine.

6. Children with PKU must avoid phenylalanine in the diet. Phenylalanine is most likely to
be a component of
a. fat.
b. sugar.
c. protein.
d. carbohydrate.
ANS: C
Phenylalanine is an amino acid found in protein. Most fats, sugars, and carbohydrates do
not contain phenylalanine.

7. A point mutation
a. results from the addition or loss of one or more bases.
b. is because of the translocation of a chromosomal segment.
c. always produces significant dysfunction.
d. involves the substitution of a single base pair.
ANS: D
A point mutation involves a single base pair substitution. A point mutation does not
result from the addition or loss of bases, or from translocation of a chromosomal
segment, but rather from a substitution. The inclusion of the abnormal amino acid in the
sequence of the protein as a result of a point mutation may or may not be of clinical
significance.

8. Males are more likely than females to be affected by ________ disorders.

a. X-linked
 b. autosomal-dominant
c. autosomal-recessive
d. chromosomal nondisjunction
ANS: A
Males are more likely than females to be affected by X-linked disorders. Females
express the X-linked disease only in the rare instance in which both X chromosomes
carry the defective gene. Males, however, do not have the safety margin of two X
chromosomes and express the disease if their one and only X chromosome is abnormal.
Males and females are equally affected by autosomal-dominant and autosomal-recessive
disorders. Chromosomal nondisjunction means that paired homologous chromosomes
fail to separate normally during either the first or second meiotic division, resulting in
germ cells that have an abnormal number of chromosomes. This can occur in both males
and females equally.

9. The primary factor associated with the risk of Down syndrome is

a. family history of heritable diseases.
b. exposure to TORCH syndrome organisms.
c. maternal alcohol intake.
d. maternal age.
ANS: D
Advanced maternal age is associated with Down syndrome in the most common form of
the disease. A family history of heritable disease is not the primary factor and occurs in
only 4% of cases. Exposure to TORCH syndrome organisms is not a risk factor for
Down syndrome. Maternal alcohol intake is not a risk factor for Down syndrome.

10. Cystic fibrosis is a single-gene disorder that primarily affects

a. brain and heart.
b. kidney and adrenals.
c. lungs and pancreas.
d. liver and intestine.
ANS: C
The alteration in chloride transport associated with cystic fibrosis is associated with
production of abnormally thick secretions in glandular tissues. The lung bronchioles and
pancreatic ducts are primarily affected, often resulting in progressive destruction of these
organs. The brain, heart, kidneys, and liver are not the primary organs affected with
cystic fibrosis.

11. Huntington disease is often transferred to offspring before a parent knows of the genetic
possibility of this disease, because
a. symptoms are so mild that they are not recognized.
b. symptoms often do not occur until approximately 40 years of age.
c. genetic testing for the disease is not possible.
d. the genetic alteration is rarely expressed.
ANS: B
Test Bank for Pathophysiology 6th Edition By Banasik

Signs of mental deterioration and involuntary muscle movements do not appear until
approximately age 40. The delayed onset means the parent may transmit the disorder to
offspring before he or she knows they have the disorder. Symptoms of Huntington’s
disease are not necessarily mild, and are not the reason for delayed identification of the
genetic susceptibility. Genetic testing for the disease is possible. The genetic alteration is
expressed if the triplet repeats are greater than 40.

12. Huntington disease primarily affects the _____ system.

a. neurologic
b. muscular
c. gastrointestinal
d. endocrine
ANS: A
Huntington disease primarily affects the neurologic system and leads to uncontrolled
movement of the extremities. Huntington disease does not primarily affect the muscles,
although the altered neural involvement secondarily causes involuntary movement of the
arms and legs. It also does not affect the gastrointestinal and endocrine systems.

13. The risk period for maternal rubella infection leading to congenital problems begins
a. prior to conception.
b. during the last trimester.
c. at birth.
d. all through pregnancy.
ANS: A
The risk period for maternal rubella infection begins prior to conception and extends to
20 weeks’ gestation, after which the virus rarely crosses the placenta. The virus rarely
crosses the placenta after 20 weeks’ gestation. The virus does not cross the placenta at
birth and would not cause congenital problems at this point. The risk period for maternal
rubella infection begins prior to conception and extends to 20 weeks’ gestation, after
which the virus rarely crosses the placenta.

MULTIPLE RESPONSE

1. Characteristics of Marfan syndrome include that it (Select all that apply.)

a. is a single-gene disorder.
b. involves alterations in connective tissue.
c. leads to skeletal and joint deformities.
d. leads to short stocky build.
e. results in dangerous cardiovascular disorders.
ANS: A, B, C, E
Marfan syndrome is a single-gene disorder that involves alterations in connective tissue
and leads to skeletal and joint deformities. The aorta weakens and may rupture and
cardiac valves may malfunction. Individuals with Marfan syndrome are typically tall and
slender, with long, thin arms and legs, rather than short and stocky.

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