CHAPTER 6

Question 0

During surgery, a surgeon is likely to request a ________ to evaluate histological features of a tissue?

a) Fine needle aspiration
b) Cytologic smear
c) Frozen section
d) Gene expression profiling

Answer 0

C) Frozen section (aka cryo-section)

Question 1

All diseases involve changes in gene structure or expression?

a) True
b) False

Answer 1

A) True

Question 2

Which of the following has been shown to have greater clinical value?

a) Cancer staging
b) Cancer grading

Answer 2

A) Cancer staging

Question 3

All congenital disorders hereditary?

a) True
b) False

Answer 3

B) False

Question 4

Breast cancer may stimulate parathyroid hormone, resulting in ________?

a) Hypercoaguability
b) Hypercalcemia
c) Septicemia
d) Hypovolemic shock

Answer 4

B) Hypercalcemia

Question 5

Which of the following involves the substitution of a single nucleotide base that results in the coding for a stop codon?

a) Frameshift mutation
b) Trinucleotide repeat
c) Nonsense mutation
d) Point mutation

Answer 5

C) Nonsense mutation

Question 7

Which of the following conditions is an example of a hereditary condition that is not congenital?

a) Cleft lip (cheiloschisis)
b) Achondroplasia
c) Congenital Syphilis
d) Muscular dystrophy

Answer 7

D) Muscular dystrophy

Question 8

Autosomal dominant conditions express phenotype changes in the ________ state?

a) Heterozygous
b) Homozygous

Answer 8

A) Heterozyous

Question 9

Which of the following is the result of a mutation in the FBN1 gene encoding for fibrillin?

a) Cystic fibrosis
b) Fragile x syndrome
c) Ehlers-Danlos syndrom
d) Marfans syndrome

Answer 9

D) Marfan Syndrome

Question 10

Which area of the body is not prominently affected by the Marfan syndrome?

a) Hands
b) Aorta
c) Colon
d) Eye

Answer 10

C) Colon

Question 11

Many contortionist are believed to have a form of __________?

a) Marfan syndrom
b) X-Lined disorders
c) Ehler-Danlos syndrome
d) Fragile x syndrome

Answer 11

C) Ehler-Danlos syndrome

Question 12

Death from a(n) _________ is the most common cause of death among individuals with Marfan Syndrome?

a) Respiratory infection
b) Ruptured aortic aneurysm
c) Blood loss anemia
d) Accidental fall

Answer 12

B) Ruptured aortic aneurysm

Question 13

Individual that are homozygous for familial hypercholesterolemia commonly die of ___________ before the age of 20 years?

a) Cutaneous xanthomas
b) Aortic dissection
c) Cerebral infarction
d) Myocardial Infarction

Answer 13

D) Myocardial Infarction

Question 14

Which percentage of individuals with cystic fibrosis manifest pancreatic abnormalities?

a) 10%
b) 25%
c) 75%
d) 90%

Answer 14

D) 90% (85-90%)

Question 15

Children who lack phenylalanine hydroxylase will develop _________ if untreated early in life?

a) Cutaneous xanthomas
b) Mental retardation
c) Myocardial infarction
d) Extreme vessel fragility

Answer 15

B) Mental Retardation

Question 16

Familial hypercholesterolemia involves a mutation in the LDLR gene and is present in 1 out of every ________ individuals?

a) 25
b) 50
c) 500
d) 1,000

Answer 16

C) 500

Question 17

Treatment of galactosemia may prevent many of the pathologicaleffects of the condition, but _______ disorders may remain?

a) Cutaneous
b) Ocular
c) Speech
d) Cardiac

Answer 17

C) Speech

Question 18

Which patient population is most likely to be impacted by a lysosomal storage disease?

a) Infants
b) Late Adolescents
c) Young Adults
d) Older Adults

Answer 18

A) Infants

Question 19

Which condition involves the acummulation of GM2 gangliosides withtin neurons and results in mental retardation.

a) Galactosemia
b) Tay-Sachs Disease
c) Gaucher disease
d)

Answer 19

3

Question 20

Which of the following conditions commonly manifest with results in coarse facial features and corneal clouding?

a) Tay-Sachs Disease
b) Neimann-Pick Disease Type C
c) Gaucher Disease
d) Muchopolysaccharidosis

Answer 20

D) Mucopolysaccharidosis

Question 21

Von Gierke disease is a _________ of glycogen storage disease.

a) Hepatic type
b) Myopathic type
c) Gaucher type
d) Cardiac type

Answer 21

A) Hepatic type

Question 22

Which type of glycogen storage disease manifest with cardiomegaly that many progress to cardiorespiratory failure?

a) von Gierke disease
b) Pompe disease
c) Myopathic type
d) Hepatic type

Answer 22

B) Pompe disease

Question 23

Chromosomal abnormalities are present in approximately 1 in ___ newborns?

a) 50
b) 200
c) 5,000
d) 20,000

Answer 23

B) 200

Question 24

When genetic material is transferred from part 1 chromosome to another it is termed a _________?

a) Aneuploidy
b) Isochromosome
c) Translocation
d) Inversion

Answer 24

C) Translocation