CHAPTER 6 Flashcards
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
C) Frozen section (aka cryo-section)
All diseases involve changes in gene structure or expression?
a) True
b) False
A) True
Which of the following has been shown to have greater clinical value?
a) Cancer staging
b) Cancer grading
A) Cancer staging
All congenital disorders hereditary?
a) True
b) False
B) False
Breast cancer may stimulate parathyroid hormone, resulting in ________?
a) Hypercoaguability
b) Hypercalcemia
c) Septicemia
d) Hypovolemic shock
B) Hypercalcemia
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
C) Nonsense mutation
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
D) Muscular dystrophy
Autosomal dominant conditions express phenotype changes in the ________ state?
a) Heterozygous
b) Homozygous
A) Heterozyous
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
D) Marfan Syndrome
Which area of the body is not prominently affected by the Marfan syndrome?
a) Hands
b) Aorta
c) Colon
d) Eye
C) Colon
Many contortionist are believed to have a form of __________?
a) Marfan syndrom
b) X-Lined disorders
c) Ehler-Danlos syndrome
d) Fragile x syndrome
C) Ehler-Danlos syndrome
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
B) Ruptured aortic aneurysm
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
D) Myocardial Infarction
Which percentage of individuals with cystic fibrosis manifest pancreatic abnormalities?
a) 10%
b) 25%
c) 75%
d) 90%
D) 90% (85-90%)
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
B) Mental Retardation
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
C) 500
Treatment of galactosemia may prevent many of the pathologicaleffects of the condition, but _______ disorders may remain?
a) Cutaneous
b) Ocular
c) Speech
d) Cardiac
C) Speech
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
A) Infants
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)
3
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
D) Mucopolysaccharidosis
Von Gierke disease is a _________ of glycogen storage disease.
a) Hepatic type
b) Myopathic type
c) Gaucher type
d) Cardiac type
A) Hepatic type
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
B) Pompe disease
Chromosomal abnormalities are present in approximately 1 in ___ newborns?
a) 50
b) 200
c) 5,000
d) 20,000
B) 200
When genetic material is transferred from part 1 chromosome to another it is termed a _________?
a) Aneuploidy
b) Isochromosome
c) Translocation
d) Inversion
C) Translocation
