Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

D2 Fall > Gen Path Exam 2 - Genetics > Flashcards

Gen Path Exam 2 - Genetics Flashcards

1
Q

What type of disease?

Marfan syndrome

A

Autosomal dominant - single gene disorder

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What type of disease?

Familial hypercholesterolemia

A

Autosomal dominant - single gene disorder

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What type of disease?

Cystic fibrosis

A

Autosomal recessive - single gene disorder

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What type of disease?

Lysosomal storage disease

A

Autosomal recessive - single gene disorder

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What type of disease?

Cleft palate

A

Complex multigenic disorder

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What type of disease?

Down syndrome (trisomy 21)

A

Cytogenetic disorder

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What type of disease?

Edwards syndrome (trisomy 18)

A

Cytogenetic disorder

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What type of disease?

Patau syndrome (trisomy 13)

A

Cytogenetic disorder

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What type of disease?

Klinefelter syndrome

A

Cytogenetic disorder

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What type of disease?

Turner syndrome

A

Cytogenetic disorder

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Transmitted in the parents’ gametes

A

Hereditary

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Increased incidence among family members

A

Familial

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Not necessarily hereditary, but might be

A

Familial

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Present at birth

A

Congenital

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Not necessarily genetic origin

A

Congenital

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Permanent changes in DNA

A

Mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Germ cell mutation can be transmitted to progeny

A

Mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Somatic cell mutation is not transmittable

A

Mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What are the 2 types of genetic abnormalities?

A

Within DNA
Epigenetic inheritance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What are the categories of genetic abnormalities within DNA?

A

Smaller - gene level
Larger - chromosome level

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What type of genetic abnormality within DNA?

Mutation

A

Smaller - gene level

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What type of genetic abnormality within DNA?

Amplification

A

Larger - chromosome level

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What type of genetic abnormality within DNA?

Deletion

A

Larger - chromosome level

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What type of genetic abnormality within DNA?

Translocation

A

Larger - chromosome level

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What type of genetic abnormality within DNA?

Inversion

A

Larger - chromosome level

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What type of genetic abnormality?

Changes in regulation of gene expression, not sequence

A

Epigenetic inheritance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What type of genetic abnormality?

Heritable

A

Epigenetic inheritance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What type of genetic abnormality?

Caused by chemical modification of DNA, often induced by environment

A

Epigenetic inheritance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

3 categories of genetic disorders

A

Single gene
Complex multigenic
Cytogenetic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Which category of genetic disorders?

Mutation in single gene

A

Single gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Which category of genetic disorders?

One mutated copy of gene needed for disease to occur

A

Autosomal dominant - Single gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Which category of genetic disorders?

Child of affected parent has 50% chance of inheriting disorder

A

Autosomal dominant - Single gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Which category of genetic disorders?

2 mutated copies of gene required for disease to manifest

A

Autosomal recessive - Single gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Which category of genetic disorders?

If both parents are carriers, each child has 25% chance of inheriting disorder

A

Autosomal recessive - Single gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Which category of genetic disorders?

Mutations on X chromosome

A

X-linked - Single gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Which category of genetic disorders?

Can be dominant or recessive

A

X-linked - Single gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Which category of genetic disorders?

More likely to affect males

A

X-linked - Single gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

What disease?

Caused by mutation in fibrillin-1 gene (FBN1)

A

Marfan syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

ECM component of elastic fibers

A

Fibrillin-1 gene (FBN1)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

What disease?

Clinical presentation includes tall thin stature, long arms/legs/fingers/toes, flexible joints, high arched palate, dislocation of ocular lens, mitral valve prolapse, aortic aneurysm and dissection, scoliosis

A

Marfan syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

What disease?

Diagnosed by clinical evaluation and genetic testing

A

Marfan syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

What disease?

Tx is antihypertensive meds and surgical intervention for aortic disease

A

Marfan syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

What disease?

Caused by mutation in LDL receptor gene (loss of function, lack of LDL uptake into liver, elevated LDL in plasma)

A

Familial hypercholesterolemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

What is one of the most common Mendelian disorders?

A

Familial hypercholesterolemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

What disease?

Clinical presentation is elevated LDL cholesterol, premature atherosclerosis/coronary artery disease, cholesterol deposits in skin

A

Familial hypercholesterolemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

Cholesterol deposits in skin

A

Xanthelasmas

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

What disease?

Diagnosed by cholesterol panel and genetic testing

A

Familial hypercholesterolemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

What disease?

Tx is statins and dietary changes

A

Familial hypercholesterolemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

What is the most common autosomal recessive disorder?

A

Cystic fibrosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

What disease?

Caused by mutation in CFTR gene

A

Cystic fibrosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

Affects chloride ion transport

A

CFTR gene mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

Causes thick mucous secretions from exocrine glands

A

CFTR gene mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

What disease?

Affects individuals of European descent

A

Cystic fibrosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

What disease?

Clinical presentation includes chronic respiratory infections, pancreatic insufficiency (protein/fat malabsorption, vitamin deficiency), salty sweat, poor growth

A

Cystic fibrosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

What disease?

Diagnosed by sweat test and genetic test

A

Cystic fibrosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

What disease?

Tx is respiratory therapy, enzyme supplements, antibiotics

A

Cystic fibrosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

What disease?

Caused by deficiency of lysosomal enzymes

A

Lysosomal storage diseases

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

What disease?

60+ types, categorized by deficient enzyme and accumulated metabolites

A

Lysosomal storage diseases

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

What are the 4 examples of Lysosomal storage diseases?

A

Gaucher disease
Tay-Sachs disease
Niemann-Pick disease
Mucopolysaccharidoses

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

Partially degraded metabolites accumulate in tissues

A

Lysosomal enzyme deficiency

61
Q

Defective degradation of organelles leads to free radical production and apoptosis

A

Lysosomal enzyme deficiency

62
Q

What disease?

More common in invididuals of Ashkenazi Jewish decent

A

Lysosomal storage diseases

63
Q

What disease?

Often fatal in childhood

A

Lysosomal storage diseases

64
Q

What disease?

Clinical presentation is progressive, CNS involvement, organ enlargement (liver, spleen), Gaucher disease, Mucopolysaccharidoses

A

Lysosomal storage diseases

65
Q

Which specific Lysosomal storage disease?

Can cause radiolucent jaw lesions

A

Gaucher disease

66
Q

Which specific Lysosomal storage disease?

Macroglossia; numerous impacted teeth w/ enlarged radiolucent follicles

A

Mucopolysaccharidoses

67
Q

What disease?

Diagnosed by enzyme assays and genetic test

A

Lysosomal storage diseases

68
Q

What disease?

Tx is enzyme replacement therapy

A

Lysosomal storage diseases

69
Q

Which category of genetic disorders?

Combo of multiple genetic factors and environmental influences

A

Complex multigenic

70
Q

Which category of genetic disorders?

No single mutated inherited gene

A

Complex multigenic

71
Q

Which category of genetic disorders?

Multiple inherited genetic polymorphisms that predispose to disease

A

Complex multigenic

72
Q

Which category of genetic disorders?

Do not follow clear Mendelian inheritance patterns

A

Complex multigenic

73
Q

Which category of genetic disorders?

More challenging to predict inheritance

A

Complex multigenic

74
Q

Which category of genetic disorders?

Environmental and lifestyle factors significantly influence whether inherited traits will be expressed phenotypically

A

Complex multigenic

75
Q

What are the 3 categories within complex multigenic disorders?

A

Normal traits
Congenital traits
Diseases

76
Q

Which category within complex multigenic disorders?

Intelligence

A

Normal trait

77
Q

Which category within complex multigenic disorders?

Height

A

Normal trait

78
Q

Which category within complex multigenic disorders?

Eye and skin color

A

Normal trait

79
Q

Which category within complex multigenic disorders?

Cleft palate

A

Congenital defect

80
Q

Which category within complex multigenic disorders?

Congenital heart defect

A

Congenital defect

81
Q

Which category within complex multigenic disorders?

Type 1 and 2 diabetes

A

Disease

82
Q

Which category within complex multigenic disorders?

Hypertension

A

Disease

83
Q

Which category within complex multigenic disorders?

Gout

A

Disease

84
Q

Which category within complex multigenic disorders?

Cancer

A

Disease

85
Q

Which category within complex multigenic disorders?

Glaucoma

A

Disease

86
Q

Which category within complex multigenic disorders?

Epilepsy

A

Disease

87
Q

Which category within complex multigenic disorders?

Schizophrenia

A

Disease

88
Q

What disease?

Associated with 400 developmental syndromes

A

Cleft palate

89
Q

Name 3 developmental syndromes associated with cleft palate

A

Single-gene syndromes
Chromosome anomalies
Idiopathic

90
Q

What disease?

Can be due to non-syndromic causes

A

Cleft palate

91
Q

Name 3 non-syndromic causes of cleft palate

A

Major genes
Minor genes
Environmental factors

92
Q

What environmental factors can cause cleft palate?

A

Maternal alcohol consumption
Maternal cig smoking
Maternal anticonvulsant therapy

93
Q

What disease?

More common in men

A

Cleft palate

94
Q

What disease?

Clinical presentation includes disturbance in fusion of palatal shelves, cleft palate, submucous palatal cleft, bifid uvula

A

Cleft palate

95
Q

Communication btwn oral cavity and nasal cavity

A

Cleft palate

96
Q

Surface mucosa intact

A

Submucous palatal cleft

97
Q

Minimal manifestation of cleft palate

A

Bifid uvula

98
Q

What disease?

Diagnosed by clinical exam and imaging

A

Cleft palate

99
Q

What disease?

Tx is series of surgical repairs

A

Cleft palate

100
Q

Which category of genetic disorders?

Abnormalities in chromosome structure/number

A

Cytogenetic

101
Q

Which category of genetic disorders?

Structural abnormality

A

Cytogenetic

102
Q

Which category of genetic disorders?

Deletion, duplication, translocation of chromosome segments

A

Cytogenetic

103
Q

Which category of genetic disorders?

Aneuploidy

A

Cytogenetic

104
Q

Abnormal number of chromsomes

A

Aneuploidy

105
Q

Which category of genetic disorders?

Typically involve intellectual disabilities, physical abnormalities, congenital defects

A

Cytogenetic

106
Q

Which category of genetic disorders?

Loss of chromosomal material more severe defects than gain

A

Cytogenetic

107
Q

Which category of genetic disorders?

Imbalance of sex chromosomes tolerated better than autosomes

A

Cytogenetic

108
Q

Which category of genetic disorders?

Sex chromosomal disorders can be subtle and may not be detected at birth

A

Cytogenetic

109
Q

Which category of genetic disorders?

Lyonization

A

Cytogenetic

110
Q

Only one X chromosome is active

A

Lyonization

111
Q

Which category of genetic disorders?

Y chromosome caries only small amount of genetic info

A

Cytogenetic

112
Q

Which category of genetic disorders?

Genetic result from de novo changes

A

Cytogenetic

113
Q

Which category of genetic disorders?

Not inherited from parents

A

Cytogenetic

114
Q

Which category of genetic disorders?

Recurrence in siblings is low

A

Cytogenetic

115
Q

What disease?

Caused by 3 copies (trisomy) of chromosome 21

A

Down syndrome (trisomy 21)

116
Q

What is the most common cytogenic disorder?

A

Down syndrome (trisomy 21)

117
Q

What diseases?

Risk increases with advanced maternal age

A

Down syndrome (trisomy 21)
Edwards syndrome (trisomy 18)
Patau syndrome (trisomy 13)

118
Q

What disease?

Clinical presentation is intellectual disability, distinct facial features, hypotonia, short stature, increased risk of congenital heart disease, increased risk of leukemia

A

Down syndrome (trisomy 21)

119
Q

What disease?

Epicanthic folds and flat facial profile

A

Down syndrome (trisomy 21)

120
Q

What disease?

Clinical presentation is macroglossia, gingivitis, perio, early tooth loss, candidiasis, resistance to caries due to more alkaline saliva, bruxism, mouth breathing, narrow palate/crowding, delayed eruption of permanent teeth

A

Down syndrome (trisomy 21)

121
Q

What diseases?

Diagnosed by prenatal screening and genetic test after birth

A

Down syndrome (trisomy 21)
Edwards syndrome (trisomy 18)
Patau syndrome (trisomy 13)

122
Q

What disease?

Tx is medical surveillance

A

Down syndrome (trisomy 21)

123
Q

What disease?

Caused by 3 copies (trisomy) of chromosome 18

A

Edwards syndrome (trisomy 18)

124
Q

What disease?

More common in females

A

Edwards syndrome (trisomy 18)

125
Q

What disease is the 2nd most common cytogenic disorder?

A

Edwards syndrome (trisomy 18)

126
Q

What disease?

Clinical presentation is heart defect, respiratory defect, prominent back of head, malformed low set ears, micrognathia (small mandible), index finger overlaps other fingers, clubbed feet

A

Edwards syndrome (trisomy 18)

127
Q

What diseases?

Tx is supportive therapy

A

Edwards syndrome (trisomy 18)
Patau syndrome (trisomy 13)

128
Q

What disease?

Median survival is 2.5-14.5 days

A

Edwards syndrome (trisomy 18)

129
Q

What disease?

Fewer than 10% survive beyond 1st year

A

Edwards syndrome (trisomy 18)

130
Q

What disease?

Caused by 3 copies (trisomy) of chromosome 13

A

Patau syndrome (trisomy 13)

131
Q

What is the 3rd most common cytogenetic disorder?

A

Patau syndrome (trisomy 13)

132
Q

What disease?

Clinical presentation is intellectual disability, microcephaly, microphthalmia (small eyes), cleft lip/palate, polydactyly, cardiac defects, renal defects, clubbed feet

A

Patau syndrome (trisomy 13)

133
Q

What disease?

43% live longer than 1 week

A

Patau syndrome (trisomy 13)

134
Q

What disease?

10% live longer than 5 years

A

Patau syndrome (trisomy 13)

135
Q

What disease?

Caused by two X chromosomes and one Y chromosome

A

Klinefelter syndrome

136
Q

What disease?

Caused by 47, XXY karyotype typically

A

Klinefelter syndrome

137
Q

What disease?

Risk factors are advanced maternal age and history of irradiation in either parent

A

Klinefelter syndrome

138
Q

What disease?

Clinical presentation is tall stature, reduced facial/body hair, gynecomastia (male breast development), feminine fat distribution, testicular atrophy, varicose veins, mild intellectual impairment

A

Klinefelter syndrome

139
Q

What disease?

Increased risk of autoimmune disorder, breast cancer, venous thromboembolic disease, osteoporosis, infertility

A

Klinefelter syndrome

140
Q

What disease?

Often diagnosed during/after puberty and genetic test

A

Klinefelter syndrome

141
Q

What disease?

Tx is testosterone replacement therapy

A

Klinefelter syndrome

142
Q

What disease?

Caused by female missing an X chromosome

A

Turner syndrome

143
Q

What disease?

Caused by 45, X karyotype

A

Turner syndrome

144
Q

What disease?

Advanced maternal age is a risk factor, but most cases are random

A

Turner syndrome

145
Q

What disease?

Clinical presentation is short stature, webbing of neck, low posterior hairline, amenorrhea (lack of period), infertility, decreased female secondary sex characteristics, cardiovascular abnormalities, hypothyroidism

A

Turner syndrome

146
Q

In Turner syndrome, what is the most common cause of death in childhood?

A

Cardiovascular abnormalities

147
Q

What disease?

Diagnosed by genetic test

A

Turner syndrome

148
Q

What disease?

Tx is growth hormone therapy and estrogen replacement

A

Turner syndrome

D2 Fall (37 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions