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General Pathology > Chapter 6 > Flashcards

Chapter 6 Flashcards

1
Q

This is a permanent change in the DNA sequence.
A. DNA methylation
B. Histone Modification
C. Genetic mutation

A

C. Genetic Mutation

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2
Q

This type of mutation is present throughout all cells of the body.
A. Somatic
B. Germ
C. Sporatic

A

B. Germ

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3
Q

This type of mutation is localized to a specific area of cells.
A. Somatic
B. Germ
C. Congenital

A

A. Somatic

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4
Q

A disorder, genetic or familial, that is transmitted to offspring
A. Congenital
B. Prenatal
C. Hereditary

A

C. Hereditary

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5
Q

All congenital disorders are hereditary. T/F

A

False

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6
Q

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. Nonsense mutation
C. Point mutation

A

B. Nonsense mutation

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7
Q

Which of the following involves the substitution of a single nucleotide base that results in the coding for a different amino acid?
A. Frameshift mutation
B. Nonsense mutation
C. Point Mutation

A

C. Point mutation

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8
Q

Which of the following involves the instertion/deletion of 1 or 2 nucleotides that alters the codon reading area?
A. Frameshift mutation
B. Nonsense mutation
C. Trinucleotide repeat

A

A. Frameshift mutation

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9
Q

Which of the following involves the amplification of a 3 nucleotide sequence?
A. Frameshift mutation
B. Nonsense mutation
C. Trinuceotide repeat

A

C. Trinucleotide Repeat

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10
Q 
Which of the following conditions is an example of a hereditary condition that is not congenital? 
A. Cleft lip
B. Achondroplasia
C. Congenital syphilis
D. Muscular dystrophy
A

D. Muscular dystrophy

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11
Q

Autosomal recessive conditions typically express phenotypic changes in the ______ state.
A. Heterozygous
B. Homozygous

A

B. Homozygous

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12
Q

Autosomal dominant conditions need ___ allele change(s) or mutation(s).
A. 1
B. 2
C. 0

A

A. 1

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13
Q

Which of the following is the result of a mutation in the FBN1 gene encoding fibrillin?
A. Ehlers-Danlos syndrome
B. Cystic fibrosis
C. Marfan Syndrome

A

C. Marfan Syndrome

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14
Q

Fragile X syndrome is associated with which mutation?
A. Nonsense mutation
B. Trinucleotide repeat
C. Frameshift mutation

A

B. Trinucleotide repeat

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15
Q 
Which area of the body is not commonly affected by Marfan syndrome?
A. Hands
B. Colon
C. Aorta
D. Eye
A

B. Colon

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16
Q 
Which is the most common cause of death among people with Marfan syndrome? 
A. Accidental Fall
B. Blood loss anemia
C. Respiratory Infection
D. Ruptured aortic aneurysm
A

D. Ruptured aortic aneurysm

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17
Q

Which of the following is a result of defective collagen synthesis?
A. Ehlers-Danlos syndrome
B. Cystic Fibrosis
C. Marfan syndrome

A

A. Ehlers-Danlos syndrome

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18
Q 
Most contortionists are believed to have a form of \_\_\_\_\_\_, which causes hypermobile joints?
A. Marfan syndrome
B. Phenylketonuria
C. Fragile X
D. Ehlers-Danlos syndrome
A

D. Ehlers-Danlos syndrome

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19
Q

Hypercholesterolemia, caused by impaired LDL transport, is more severe/lethal in __________, and less severe in ________.
A. Heterozygous, Homozygous
B. Homozygous, Heterozygous

A

B. Homozygous, Heterozygous

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20
Q 
Individuals with Homozygous Hypercholesterolemia commonly die of \_\_\_\_\_\_ before the age of 20.
A. Xanthoma
B. Aortic dissection
C. Myocardial Infarction
D. Cerebral Infarction
A

C. Myocardial Infarction

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21
Q

Cystic fibrosis is most common among what demographic?
A. African Americans
B. Ashkenazi Jews
C. Caucasians

A

C. Caucasians

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22
Q

Cystic Fibrosis is caused by a mutation in what gene?
A. LDLR gene
B. CFTR gene
C. RB gene

A

B. CFTR gene

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23
Q

90% of cystic fibrosis patients have ______.
A. infertility
B. Chronic GI infections
C. Pancreatic insufficiency

A

C. Pancreatic insufficiency

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24
Q

The CFTR gene, when mutated, will ________.
A. Decrease cholesterol transport
B. Decrease chloride ion absorption
C. Decrease collagen synthesis

A

B. Decrease chloride ion absorption

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25
Q 
Children who lack phenylalanine hydroxylase will develop \_\_\_\_\_\_\_\_ if untreated in early life and commonly smell musty. 
A. Cutaneous xanthomas
B. Cognitive deficit
C. Myocardial infarction
D. Vessel fragility
A

B. Cognitive deficit

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26
Q

In adulthood, phenylalanine is less dangerous, except when a woman is pregnant because Phenylalanine is a _______, meaning it can cross the placenta and cause harm to the fetus.
A. Neuortoxic
B. Water soluble
C. Teratogen

A

C. Teratogen

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27
Q

Galactosemia, caused by a mutated GALT gene, can be treated by ________.
A. GALT enzyme replacement
B. Lactose-free diet
C. nothing, its fatal

A

B. Lactose-free diet

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28
Q

Treatment of galactosemia may prevent many of the pathological effects of the condition, but _______ disorders may remain.
A. Cutaneous
B. Cardiac
C. Speech

A

C. Speech

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29
Q

Which patient population is most likely to be impacted by a lysosomal storage disease?
A. Infants
B. Adolescents
C. Elderly

A

A. Infants

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30
Q

Which condition involves the accumulation of Gm2 gangliosides within neurons and results in cognitive deficits?
A. Galactosemia
B. Tay-Sachs disease
C. Gaucher disease

A

B. Tay-Sachs disease

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31
Q

This disease is causes a Cherry Red Macula and commonly affects Ashkenazi Jews.
A. Niemann-Pick disease
B. Gaucher disease
C. Tay-Sachs disease

A

C. Tay-Sachs Disease

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32
Q

Which disease is not an enzyme deficiency?
A. Tay-Sachs
B. Niemann-Pick disease, Type A and B
C. Niemann-Pick disease, Type C

A

C. Niemann-Pick disease, Type C

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33
Q

Which of the following causes hepatosplenomegaly, osteolysis, Erlenmeyer Flask deformity, and pancytopenia?
A. Gaucher disease
B. Mucopolysaccharidosis
C. Niemann-Pick disease, Type C

A

A. Gaucher disease

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34
Q

Which of the following conditions commonly manifests with coarse facial features and corneal clouding?
A. Tay-Sachs disease
B. Niemann-Pick disease, Type C
C. Mucopolysaccharidosis

A

C. Muchopolysaccharidosis

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35
Q 
The two forms of Mucopolysaccharidosis are different in the way they are inherited; Hurler syndrome is \_\_\_\_\_\_ and Hunter Syndrome is \_\_\_\_\_\_\_.
A. X-linked, Autosomal Dominant
B. X-linked, Autosomal Recessive
C. Autosomal recessive, X-linked
D. Autosomal Dominant, X-linked
A

C. Autosomal recessive, X-linked

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36
Q

Mucopolysaccharidosis causes ______ to accumulate.
A. GAGs
B. Lipids
C. Mucus

37
Q

von Gierke disease is a ______ of glycogen storage disease.
A. Hepatic type
B. Myopathic type
C. Cardiac type

A

A. Hepatic type

38
Q

McAdle disease, a glycogen storage disease, usually presents with fairly mild, except in the case of _______, which can cause life-threatening kidney failure.
A. Glomerulonephritis
B. Rhabdomyolysis
C. Nephromegaly

A

B. Rhabdomyolysis

39
Q

Which glycogen storage disease manifests with cardiomegaly that may progress to cardiorespiratory failure?
A. von Gierke disease
B. McAdle disease
C. Pompe disease

A

C. Pompe disease

40
Q 
When genetic material is transferred from part of 1 chromosome to another it is termed a \_\_\_\_\_\_\_\_.
A. Aneuploidy
B. Isochromosome
C. Translocation
D. Inversion
A

C. Translocation

41
Q

Additional genetic material produces more severe defects than does loss of genetic material. T/F

42
Q

Most chromosomal disorders are inherited disorders. T/F

43
Q

Allosomal abnormalities are generally less severe than autosomal abnormalities. T/F

44
Q

Which disorder is caused by a Trisomy of chromosome 18 and manifests with cognitive, cardiac, and renal issues?
A. Patau syndrome
B. Turner syndrome
C. Edwards syndrome

A

C. Edwards syndrome

45
Q

Which disorder is caused by a trisomy of chromosome 13 and manifests with cardiac and renal issues and is usually lethal by age 1?
A. Patau syndrome
B. Edwards syndrome
C. Cri du chat syndrome

A

A. Patau syndrome

46
Q

Which disorder is caused by a fragmented 5th chromosome and causes cognitive and motor dysfunction and can lead to problems swallowing?
A. Edwards syndrome
B. Cri du chat syndrome
C. Patau syndrome

A

B. Cri du chat syndrome

47
Q

Trisomy 21 icauses what disorder?

A

Down Syndrome

48
Q

What are the three causes of trisomy 21?

A

nondisjunction
robersonian translocations
mosaics

49
Q

High maternal age is associated with which genetic change?
A. Isochromosomes
B. Deletions
C. Nondisjunction

A

C. Nondisjunction

50
Q

Virtually all patients with trisomy 21 older than 40 years of age develop neuropathic changes associated with _______.
A. Amyotrophiic lateral sclerosis
B. Huntington disease
C. Alzheimer disease

A

C. Alzheimer disease

51
Q

Doctors of chiropractic should be aware that patients with trisomy 21 may manifest with ________.
A. Aggressive behavior
B. Atlanto-axial instability
C. Hypermobility

A

B. Atlanto-axial instability

52
Q

Which of the following is the most common chromosomal disorder?
A. Turner syndrome
B. Down syndrome
C. Edward syndrome

A

B. Down syndrome

53
Q

22q11.2 deletion syndrome can be highly variable, but can cause ________.
A. Epicanthic folds
B. Microcephaly
C. Hypocalcemia

A

C. Hypocalcemia

54
Q

What disorder is most commonly associated with XXY genotype, and manifests with sterility, gynocomastia, and possible cognitive impairment?
A. Turner Syndrome
B. Klinefelter Syndrome
C. Edward Syndrome

A

B. Klinefelter syndrome

55
Q

What is the most common cause of male hypogonadism and sterility?

A

Klinefelter syndrome

56
Q

XXY genotype is associated with what risk factor?
A. Maternal smoking
B. Maternal age
C. Robertsonian translocations

A

B. Maternal Age (nondisjunction)

57
Q

Turner syndrome is caused by the ______ of an X chromosomes.
A. Addition
B. Deletion
C. Inactivation

A

B. Deletion

58
Q

Which disorder manifests with amenorrhea, neck webbing and cardiovascular malformations?
A. Turner Syndrome
B. Klinefelter Syndrome
C. Edward Syndrome

A

A. Turner Syndrome

59
Q

“Familial Mental Retardation” is associated with which single gene disorder?
A. Tay-Sachs Disease
B. Fragile X Syndrome
C. Edward Syndrome

A

B. Fragile X Syndrome

60
Q

Fragile X is caused by what genetic change?
A. Robertsonian Translocation
B. Isochromosomes
C. Trinucleotide Repeat

A

C. Trinucleotide repeat

61
Q

Leber Hereditary Optic Neuropathy is an example of what type of disorder?
A. Mitochondrial Disorder
B. Epigenetic imprinting
C. Allosomal Disorder

A

A. Mitochondrial Disorder

62
Q

Genomic imprinting of the paterntal chromosome and deletion of the maternal chromosome causes which syndrome?
A. Leber Hereditary Optic Neuropathy
B. Angelman Syndrome
C. Prader-Willi Syndrome

A

B. Angelman Syndrome

63
Q

Angelman syndrome can manifest as cognitive deficit, seizures, inappropriate laughter and affection for _____.

64
Q

Maternal imprinting and paternal deletion can cause which syndrome?
A. Leber Hereditary Optic Neuropathy
B. Angelman Syndrome
C. Prader-Willi Syndrome

A

C. Prader-Willi Syndrome

65
Q

Prader-Willi is characterized by what symptom?

A

Hyperphagia (overeating)

66
Q

The most common cause of death among individuals between the ages of 1-14 years is _________.
A. Congenital Malformation
B. Malignant neoplasm
C. Accidents

A

C. Accidents

67
Q

Transcervical infections are spread through _________ and can be caused by common STIs like Gonorrhea and Chlamydia.
A. Vaginal Exposure
B. Placenta
C. Maternal blood

A

A. Vaginal Exposure

68
Q

Transplacental infections are spread through the placenta and can be categorized by the anagram _____.

69
Q

TORCH infections:

A 
Toxoplasma gondii
Other: HIV, HBV etc
Rubella virus
CMV
HSV
70
Q

Intrauterine constraint is an example of which error in morphogenesis?
A. Malformation
B. Disruption
C. Deformation

A

C. Deformation

71
Q

Most common cause of infant morality is ______.
A. Low birth weight disorders
B. Sudden infant death syndrome
C. Accidents
D. Congenital or chromosomal abnormalities

A

D. Congenital or chromosomal abnormalities

72
Q

Respiratory distress syndrome, necrotizing enterocolitis, and sepsis are all conditions associated with _______.
A. Gestational diabetes
B. Prematurity
C. Female infants

A

B. Prematurity

73
Q

Surfactant is produced by which cells?
A. Type I Pneumocytes
B. Type II Pneumocytes
C. Type III Pneumocytes

A

B. Type II Pneumocytes

74
Q 
Recovery begins within \_\_\_\_\_\_\_\_ in uncomplicated cases of neonatal respiratory distress syndrome with management.
A. 6 hours
B. 3-4 days
C. 1-2 weeks
D. 1 month
A

B. 3-4 days

75
Q

Neutrophils are commonly associated with the formation of hyaline membranes in infants with respiratory distress syndrome. T/F

76
Q

Disease associated with prematurity in which the the GI tract is broken down is called ________.

A

Necrotizing Enterocolitis

77
Q

SIDS risk is increased by:
A. Prone sleeping
B. Back sleeping

A

A. Prone sleeping

78
Q 
In most SIDS cases, the infant is younger than \_\_\_\_\_\_.
A. 2 years
B. 1 year
C. 6 months
D. 1 month
A

C. 6 months

79
Q 
Which of the following is the most likely to be lethal?
A. Hemangioma
B. Lymphangioma
C. Hydrops fetalis
D. Cystic hygroma
A

C. Hydrops fetalis

80
Q

Type of Erythroblastosis fetalis that is more common and more severe?
A. ABO incompatibility
B. Rh incompatibility

A

A. ABO incompatibility

81
Q

Kernicterus is characterized by which symptom?
A. Edema
B. Widespread bleeding
C. Jaundice

A

C. Jaundice

82
Q 
Which of the following is the most common among infants?
A. Neuroblastoma
B. Hemangioma
C. Lymphangioma
D. Sacrococcygeal teratoma
A

B. Hemangioma

83
Q 
Which tumor of infancy may develop in the adrenal medulla and is likely to secrete catecholamines?
A. Teratoma
B. Neuroblastoma
C. Lymphagioma
D. Homor-Wright Syndroma
A

B. Neuroblastoma

84
Q 
Which of the following is most likely to suggest that a 3-year-old has an undiagnosed neuroblastoma?
A. Loss of vision
B. Inability to walk
C. Bone pain
D. Failure to speak
A

C. Bone pain

85
Q

Most cases of Retinoblastoma are _____ mutations of the RB gene.
A. genetic
B. sporadic

A

B. Sporadicc

86
Q 
A patient with a "cat's eye reflex" may be suspected of having which condition?
A. Hemangioma
B. Lymphangioma
C. Retinoblastoma
D. Nephroblastoma
A

C. Retinoblastoma

87
Q 
Which of the following involves aniridia, genital abnormalities, and Wilms tumor?
A. Hemangioma
B. Lumphangioma
C. Retinoblastoma
D. Nephroblastoma
A

D. Nephroblastoma

88
Q 
Flexner-Wintersteiner rosettes are a characteristic finding of condition?
A. Teratoma
B. Neuroblastoma
C. Retinoblastoma
D. Wilms tumor
A

C. Retinoblastoma

89
Q

Prenatal genetic analysis is most commonly done by which procedure?
A. Blood draw
B. Amniocentesis

A

B. Amniocentesis

General Pathology (6 decks)

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