Brainscape's Knowledge GenomeTM

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


See full index

Pathology - Kaplan > Chapter 6 - Genetic Diseases > Flashcards

Chapter 6 - Genetic Diseases Flashcards

1
Q

Most common chromosomal disorder

A

Down Syndrome

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

Down Syndrome is caused by…

A

Meiotic nondisjunction (95%)

Robertsonian translocation (4%)

Mosaicism due to mitotic nondisjunction during embryogenesis (1%)

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

Down Syndrome: presentation (not obvious)

A

Brushfield spots (speckled appearance of the iris)

Hypotonia

Broad short neck

Palmar (simian)
crease

Congenital heart defects.

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

Down Syndrome: Endocardial cushion defect, if present, leads to…

A

Atrioventricular canal (connection between all 4 heart chambers)

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

Down Syndrome: Additional clinical problems

A

Duodenal atresia

Hirschsprung disease

Increased risk of acute lymphoblastic leukemia (ALL) and Alzheimer disease

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

Down Syndrome: median life expectancy

A

47 years

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

Edwards Syndrome is the trisomy of chromosome… and is caused by…

A

18

nondisjunction

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

Edwards Syndrome: specific characteristics

A

Overlapping flexed fingers

Rocker-bottom feet

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

Patau Syndrome is the trisomy of chromosome… and is caused by…

A

13

nondisjunction

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

Patau Syndrome: specific characteristics

A

Microcephaly

Microphthalmia

Holoprosencephaly

Polydactyly

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

Cri du chat Syndrome is due to deletion of the…

A

Short arm of chromosome 5

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

Cri du chat Syndrome: specific characteristic

A

High-pitched catlike cry

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

Cri du chat Syndrome: microdeletions include…

A

13q14 (retinoblastoma gene)

11p13 (WAGR complex [Wilms tumor, aniridia, genitourinary anomalies])

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

Microdeletions require…to be detected

A

Molecular techniques

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

Klinefelter syndrome is caused by … and is a common cause of …

A

Meiotic nondisjunction

Male hypogonadism

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

Klinefelter syndrome: karyotype

A

47, XXY

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

Klinefelter syndrome: hormones findings

A

↑ FSH and LH

↓ Testosterone

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

Klinefelter syndrome: 3 characteristics

A

Testicular atrophy

High-pitched voice

Gynecomastia

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

Turner syndrome is a common cause of … The most common karyotype is …

A

Female hypogonadism

45, XO

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

Turner syndrome: 4 characteristics

A

Fail to develop secondary sex characteristics

Short stature

Widely spaced nipples

Atrophic streak ovaries

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

Turner syndrome: 4 clinical features

A

Cystic hygroma

Hypothyroidism

Preductal coarctation of the aorta and bicuspid aortic valve

Hydrops fetalis

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

Turner syndrome: females with 45,X/46,XY mosaicism are at risk for

A

Gonadoblastoma

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

In Turner syndrome, there is no…

A

Barr body

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

True hermaphrodite: genetic sex possibilities

A

46 XX, 46 XY, 45 X/XY (mosaics)

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

True hermaphrodite: gonadal sex possibilities

A

Ovary on one side and testes on the other

Ovotestes: a gonad with both testicular and ovarian tissue

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

Female pseudohermaphroditism: genetic sex:

A

46 XX

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

Female pseudohermaphroditism: gonadal and ductal sex:

A

normal female organs

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

Female pseudohermaphroditism: phenotypic sex:

A

Ambiguous or virilized external genitalia

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

Female pseudohermaphroditism: is caused by

A

Exposure of a female fetus to androgens in utero:
-congenital adrenal hyperplasia
-androgen-producing tumors (ovarian sertoli-leydig
cell tumor)
-exogenous androgens

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

Male pseudohermaphroditism: genetic sex:

A

46, XY

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

Male pseudohermaphroditism: gonadal and ductal sex:

A

Testes present

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

Male pseudohermaphroditism: phenotypic sex:

A

Ambiguous or female genitalia

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

Male pseudohermaphroditism: most common cause

A

Testicular feminization (complete androgen insensitivity syndrome)

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

Testicular feminization: genetic defect

A

Mutation of the androgen receptor (Xq11-12)

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

Mendelian disorders are characterized by

A

Single gene mutations

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

Mendelian disorders include

A

Point and frameshift mutations

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

Point mutations occur with a…

A

Single nucleotide base substitution

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

Frameshift mutations occur when … of bases leads to a shift in the reading frame of the gene.

A

insertion or deletion

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

Autosomal recessive diseases: onset

A

Early

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

Autosomal dominant diseases: onset

A

Varies

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

Autosomal recessive diseases: usually affects…

A

Enzyme protein

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

Autosomal dominant diseases: usually afects…

A

Structural protein or receptor

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

Most common lethal genetic disorder in Caucasians

A

Cystic fibrosis

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

Cystic fibrosis is due to mutation of the…

A

Chloride channel protein CFTR (Cystic fibrosis transmembrane conductance regulator).

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

Location of CFTR (cystic fibrosis transmembrane conductance regulator) gene

A

Chromosome 7

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

In Cystic Fibrosis, CFTR gene most commonly has been damaged by a deletion of the…

A

Amino acid phenylalanine at position 508 (ΔF508)

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

Cystic Fibrosis manifestations: lungs

A

Recurrent infections

Chronic bronchitis

Bronchiectasis

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

Cystic Fibrosis manifestations: pancreas

A

Atrophy, fibrosis and pancreatic insufficiency

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

Cystic fibrosis: pancreatic insufficiency consequences

A

fat malabsorption, steatorrhea, and deficiency of fat-soluble vitamins

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

Cystic Fibrosis manifestations: male reproductive system

A

Absence or obstruction of the vas deferens and epididymis - infertility

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

Cystic Fibrosis manifestations: liver

A

Biliary cirrhosis

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

Cystic Fibrosis manifestations: small intestines

A

Obstruction (meconium ileus)

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

Cystic Fibrosis: diagnosis

A

Sweat test (elevated NaCl) or DNA probes

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

Cystic Fibrosis: 3 most common pulmonary infections

A

S. aureus, H. influenzae and P. aeruginosa

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

Phenylketonuria (PKU) is a deficiency of … , resulting in toxic levels of phenylalanine and a lack of …

A

Phenylalanine hydroxylase

Tyrosine

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

Phenylketonuria (PKU): clinical onset

A

Intellectual development disorder with 6 months

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

Phenylketonuria (PKU): the lack of tyrosine causes

A

Light-colored skin and hair

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

Mousy or musty odor to the sweat and urine secondary to metabolite […] accumulation is seen in…

A

Phenylacetate

Phenylketonuria (PKU)

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

Phenylketonuria (PKU): treatment

A

Restriction of phenylalanine

Avoid aspartame!

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

Alkaptonuria (ochronosis): deficiency of … results in the accumulation of …

A

Homogentisic acid oxidase

Homogentisic acid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

Alkaptonuria (ochronosis): presentation

A

Urine that turns black upon standing

Black-stained cartilage - discoloration of the nose and ears

Early degenerative arthritis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

Albinism is caused by a lack of…

A

Tyrosinase

63
Q

Albinism increases the risk of…

A

Basal and squamous cell carcinomas

64
Q

Glycogen storage diseases: concept

A

deficiencies of one of the enzymes of glycogen metabolism

→ glycogen accumulates in liver, heart, and skeletal muscle.

65
Q

Glycogen storage diseases: Type I - deficiency and symptoms

A

von Gierke disease: glucose-6-phosphatase

Hepatomegaly and hypoglycemia.

66
Q

Glycogen storage diseases: Type II - deficiency and symptoms

A

Pompe disease: lysosomal α-1,4-glucosidase (acid maltase)

Hepatomegaly, hypotonia, cardiomegaly, and death from cardiac failure in 2 years.

67
Q

Glycogen storage diseases: Type V - deficiency and symptoms

A

McArdle syndrome: muscle glycogen phosphorylase

Exercise-induced muscle cramps

68
Q

Tay-Sachs disease is a deficiency of

A

Hexosaminidase A (due to mutation of HEXA gene on chromosome 15)

69
Q

Tay-Sachs disease leads to accumulation of…

A

GM2 ganglioside in the lysosomes of the CNS and retina.

70
Q

Tay-Sachs disease is common in

A

Ashkenazi Jews

71
Q

Tay-Sachs disease: clinical findings

A

Cherry-red spots in the retina due to accentuation of the macula

Dilated neurons with cytoplasmic vacuoles

72
Q

Tay-Sachs disease: presentation

A

6 months: progressive mental deterioration and motor incoordination

2-3 years: death

73
Q

Tay-Sachs disease: Electron microscopy shows…

A

distended lysosomes with whorled membranes

74
Q

Tay-Sachs disease: diagnosis

A

Enzyme assays and DNA probes

75
Q

Niemann-Pick disease is caused by a deficiency of

A

Sphingomyelinase

76
Q

Niemann-Pick disease leads to the accumulation of

A

Sphingomyelin in lysosomes of CNS and reticuloendothelial system (monocytes and macrophages)

77
Q

Niemann-Pick disease is common in

A

Ashkenazi Jews

78
Q

Zebra bodies: concept

A

concentric lamellated inclusions seen in the cytoplasm on electron microscopy.

79
Q

Zebra bodies are present in:

A

Niemann-Pick disease, Fabry disease and Hurler syndrome

80
Q

Niemann-Pick disease: presentation

A

Massive splenomegaly and lymphadenopathy

Progressive mental and motor manifestations

81
Q

Niemann-Pick disease: onset of symptoms

A

6 months

82
Q

Niemann-Pick disease, like Tay-Sachs disease, affects the retina and CNS, but also…

A

Reticuloendothelial system

83
Q

Niemann-Pick disease type C: a defect in … causes …

A

Cholesterol transport

Ataxia, dysarthria, and learning difficulties.

84
Q

Niemann-Pick disease: most common type

A

C

85
Q

In Niemann-Pick types A and B, there is a mutation affecting an…

A

Enzyme that metabolizes lipids

86
Q

T or F?

All forms of Niemann-Pick disease is lethal

A

True

87
Q

Most common lysosomal storage disorder:

A

Gaucher disease

88
Q

Gaucher disease is a deficiency of:

A

Glucocerebrosidase

89
Q

Gaucher disease: glucocerebroside accumulates predominantly in the…

A

Lysosomes of the reticuloendothelial system

90
Q

Gaucher disease: Type I represents 99% of cases and presents in adulthood with…

A

Hepatosplenomegaly;

thrombocytopenia/pancytopenia

lymphadenopathy

and bone marrow involvement that may lead to bone pain, deformities, and fractures.

91
Q

Gaucher disease: Central nervous system manifestations occur in types…

A

II and III

92
Q

Gaucher cells: concept

A

Enlarged macrophages with a fibrillary (tissue paper–like) cytoplasm

93
Q

Mucopolysaccharidosis (MPS): concept

A

Deficiencies in lysosomal enzymes that degrades mucopolysaccharides (glycosaminoglycans).

94
Q

Mucopolysaccharidosis (MPS): clinical features

A

Cloudy cornea

Hepatosplenomegaly

Skeletal deformities

Coarse facial features

Cardiac lesions

95
Q

MPS I: is a deficiency of … and is the … form

A

α-L-iduronidase

severe

96
Q

MPS I is also called…

A

Hurler syndrome

97
Q

MPS II is also called…

A

Hunter syndrome

98
Q

MPS II: inheritance

A

X-linked recessive

99
Q

MPS II is a deficiency of

A

L-iduronate sulfatase

100
Q

Most common inherited disorder

A

Familial hypercholesterolemia

101
Q

Familial hypercholesterolemia is due to a mutation in…

A

LDL receptor gene (LDLR) on chromosome 19

102
Q

Familial hypercholesterolemia: mutations in the LDLR gene causes…

A

Increased levels of circulating cholesterol

Loss of feedback inhibition of HMG-CoA reductase

Increased phagocytosis of LDL by macrophages

103
Q

Familial hypercholesterolemia: Class I defect

A

No LDL receptor synthesis

104
Q

Familial hypercholesterolemia: Class II defect

A

Transport out of the endoplasmic reticulum

105
Q

Familial hypercholesterolemia: Class III defect

A

LDL receptor binding

106
Q

Familial hypercholesterolemia: Class IV defect

A

Ability to internalize bound LDL

107
Q

Familial hypercholesterolemia: Class V defect

A

Recycling of the LDL receptor

108
Q

Familial hypercholesterolemia: clinical features

A

Elevated serum cholesterol

Skin xanthomas (collections of lipid-laden macrophages)

Xanthelasma around the eyes

Premature atherosclerosis

109
Q

Marfan syndrome is due to a mutation of the

A

Fibrillin gene (FBN1) on chromosome 15q21

110
Q

Marfan syndrome: skeletal changes

A

Hyperextensible joints

Pectus excavatum and pectus carinatum

Ectopia lentis (bilateral subluxation of the lens)

111
Q

Marfan syndrome: process that leads to the cardiovascular complications

A

Cystic medial degeneration of the media of elastic arteries with a loss of elastic fibers and smooth muscle cells

112
Q

Marfan syndrome: cardiovascular complications

A

Dissecting aortic aneurysm

Aortic valve insufficiency and/or mitral valve prolapse.

113
Q

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue diseases that have in common a…

A

Defect in collagen structure or synthesis.

114
Q

Ehlers-Danlos syndrome (EDS): clinical features

A

Hyperextensible skin that is easily traumatized and hyperextensible joints

115
Q

Ehlers-Danlos syndrome (EDS): complications

A

Poor wound healind

Joint dislocations

Diaphragmtaic hernias (EDS Type 1)

Retinal detachment and kyphoscoliosis (type 6)

Arterial or colonic rupture (type 4)

116
Q

EDS: AD types

A

3, 4 and 6

117
Q

EDS: most common type

A

3

118
Q

EDS Type 4: defect is in

A

Type III collagen gene

119
Q

EDS Type 6: defect is in

A

Lysyl hydroxylase gene

120
Q

EDS Type 9: inheritance

A

XLR

121
Q

EDS Type 9: defect is in

A

Copper metabolism

122
Q

Neurofibromatosis Type 1 is also known as…

A

(von Recklinghausen disease)

123
Q

Neurofibromatosis Type 1 is due to a mutation of the…

A

Tumor suppressor gene NF1 located on chromosome 17 (17q11.2)

124
Q

The gene NF1 (mutated in Neurofibromatosis Type 1) normally inhibits…

A

p21 ras oncoprotein

125
Q

Neurofibromatosis Type 1: presentation

A

Multiple neurofibromas

Benign tumors of peripheral nerves

Pigmented skin lesions (6 or more “cafe- au-lait spots”)

Pigmented iris hamartomas (Lisch nodules)

126
Q

Neurofibromatosis Type 1 increases the risk of

A

Meningiomas

Pheochromocytoma

Adrenal tumor

127
Q

Neurofibromatosis Type 2 (bilateral acoustic): there is a mutated…

A

Tumor suppressor gene NF-2 (22q12.2) on chromosome 22

128
Q

Neurofibromatosis Type 2 (bilateral acoustic): clinical features

A

Vestibular schwannomas (acoustic neuromas)

Increased risk of meningioma and ependymoma

129
Q

von Hippel-Lindau disease is due to a mutation of the…

A

Tumor suppressor gene VHL on chromosome 3p (3p26-p25)

130
Q

The gene suppressed in von Hippel-Lindau disease encodes a protein which function is…

A

To tag proteins with ubiquitin for degradation

131
Q

von Hippel-Lindau disease: clinical manifestations

A

Hemangioblastomas of the retina, cerebellum, brain stem, and spinal cord

Cysts of the liver, pancreas, and kidneys

Multiple bilateral renal cell carcinomas

132
Q

Lesch-Nyhan syndrome results from deficiency of … which impairs …

A

Hypoxanthine-guanine phosphoribosyl transferase (HGPRT)

Salvaging of hypoxanthine and guanine

133
Q

Lesch-Nyhan syndrome: clinical features

A

Intellectual disability

Hyperuricemia

Self-mutilation

134
Q

In Menkes disease, a mutation of the … impairs …

A

ATP7A gene

copper distribution

135
Q

Example of X-dominant disease

A

Alport syndrome

136
Q

Alport syndrome: clinical features

A

Hereditary glomerulonephritis

Nerve deafness

137
Q

Triplet repeat mutations

A

Fragile X syndrome

Huntington disease

138
Q

Fragile X syndrome: the nucleotide sequence … repeats typically hundreds to thousands of times.

A

CGG

139
Q

Fragile X syndrome: the mutation occurs in the … on the

A

FMR-1 gene

X chromosome (Xq27.3)

140
Q

Fragile X syndrome: characteristic phenotype

A

Elongated face with a large jaw, large everted ears, and macroorchidism

141
Q

Huntington disease is due to the triplet repeat mutation (…)

A

CAG

142
Q

Huntington disease envolves production of an abnormal protein that is…

A

Neurotoxic and causes atrophy of the caudate nucleus

143
Q

Huntington disease: age of onset

A

20-50 years

144
Q

Huntington disease: presentation

A

Progressive dementia with choreiform movements

145
Q

Prader-Willi syndrome is due to a … on …

A

Microdeletion

Paternal chromosome 15

146
Q

Prader-Willi syndrome: presentations

A

Intellectual disability, obesity, hypogonadism, and hypotonia

147
Q

Angelman syndrome is due to a … on …

A

Microdeletion

Maternal chromosome 15

148
Q

Angelman syndrome: presentation

A

Intellectual disability, seizures, ataxia, and inappropriate laughter

149
Q

In mitochondrial disorders, the inhiretance is only from…

A

Mother

150
Q

Leber hereditary optic neuropathy causes…

A

Loss of retinal cells, which leads to central vision loss.

151
Q

Myoclonic epilepsy with ragged red fibers (MERRF) is a mitochondrial disorder characterized by…

A

Epilepsy, ataxia, peripheral neuropathy and deterioration in cognitive ability

152
Q

Myoclonic epilepsy with ragged red fibers (MERRF): phenotypic

A

Short stature and cardiomyopathy

153
Q

Myoclonic epilepsy with ragged red fibers (MERRF): muscle biopsy finding

A

Ragged red fibers

154
Q

MULTIFACTORIAL INHERITANCE: examples

A

Open neural tube defects and DM2

Pathology - Kaplan (4 decks)

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