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Genetics > Module 6: Genetic Pathology > Flashcards

Module 6: Genetic Pathology Flashcards

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1
Q

Which of the following is NOT a possible outcome of a base pair substitution mutation?

A. Silent mutation
B. Missense mutation
C. Change in reading frame
D. Nonsense mutation

A

C. Change in reading frame

Base pair substitution:

  • silent mutation
  • missense mutation
  • nonsense mutation
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2
Q

Which of the following is characterized by insertion or deletion of one or more base pairs?

A. Silent mutation
B. Missense mutation
C. Nonsense mutation
D. Frameshift mutation

A

D. Frameshift mutation

Frameshift mutation: insertion or deletion of one or more base pairs

Silent mutation: no change in AA
Missense mutation: change in AA
Nonsense mutation: creates a stop codon

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3
Q

Which of the following NOT a mutation caused by one base pair being substituted for another?

A. Silent mutation
B. Missense mutation
C. Nonsense mutation
D. Frameshift mutation

A

D. Frameshift mutation

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4
Q

Which of the following mutations causes a change in the entire “reading frame”?

A. Silent mutation
B. Missense mutation
C. Nonsense mutation
D. Frameshift mutation

A

D. Frameshift mutation

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5
Q

______ is a common variation at a single nucleotide position.

A

Single-nucleotide Polymorphism

SNP > 1%

Point mutation < 1%

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6
Q

________ are Non-DNA changes but are alterations in gene or protein expression.

A. Polymorphism
B. Epigenetic changes
C. Alterations in Non-coding RNAs
D. Translocation

A

B. Epigenetic changes

SNP: a common variation at a single nucleotide position

Epigenetic changes: Non-DNA changes; eg. alterations in gene or protein expression

Alterations in Non-coding RNAs: regulatory genes that do not code for proteins

Translocation: the interchanging of material between nonhomologous chromosomes

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7
Q

_______ is the interchanging of material between nonhomologous chromosomes.

A. Polymorphism
B. Epigenetic changes
C. Alterations in Non-coding RNAs
D. Translocations

A

D. Translocation

Translocation occurs when two chromosomes break and the segments are rejoined in an abnormal arrangement

SNP: a common variation at a single nucleotide position

Epigenetic changes: Non-DNA changes; eg. alterations in gene or protein expression

Alterations in Non-coding RNAs: regulatory genes that do not code for proteins

Translocation: the interchanging of material between nonhomologous chromosomes

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8
Q

Which of the following are characterized by regulatory genes that do not code for proteins?

A. Polymorphism
B. Epigenetic changes
C. Alterations in Non-coding RNAs
D. Translocations

A

C. Alterations in Non-coding RNAs

SNP: a common variation at a single nucleotide position

Epigenetic changes: Non-DNA changes; eg. alterations in gene or protein expression

Alterations in Non-coding RNAs: regulatory genes that do not code for proteins

Translocation: the interchanging of material between nonhomologous chromosomes

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9
Q

Which of the following is characterized by having a normal number of chromosomes?

A. Euploid cell
B. Polyploid cell

A

B. Polyploid cell

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10
Q

Which of the following is characterized by containing 3 copies of each chromosome?

A. Triploidy
B. Tetraploidy
C. Trisomy
D. Monosomy

A

A. Triploidy

Triploidy: 3 copies of EACH chromosome (3 X 23 = 69 chromosomes)

Trisomy: 3 copies of ONE chromosome

Monosomy: 1 copy of any chromosome

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11
Q

_____ is the usual cause of aneuploidy (trisomy, monosomy).

A

Nondisjunction

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12
Q

Which of the following is NOT usually lethal?

A. Triploidy
B. Tetraploidy
C. Trisomy
D. Monosomy

A

C. Trisomy

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13
Q

If a human fetus has 45 chromosomes in it’s cells it would be called:

A. Aneuploidy
B. Polyploidy
C. Euploidy

A

A. Aneuploidy

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14
Q

If a human fetus has 69 chromosomes in it’s cells it would be called:

A. Aneuploidy
B. Polyploidy
C. Euploidy

A

B. Polyploidy

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15
Q

If a human fetus has 46 chromosomes in it’s cells it would be called:

A. Aneuploidy
B. Polyploidy
C. Euploidy

A

C. Euploidy

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16
Q

If a human has 45 chromosomes in it’s cells it would be called:

A. Triploidy
B. Tetraploidy
C. Trisomy
D. Monosomy

A

D. Monosomy

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17
Q

If a human has 47 chromosomes in it’s cells it would be called:

A. Triploidy
B. Tetraploidy
C. Trisomy
D. Monosomy

A

C. Trisomy

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18
Q

If a human has 69 chromosomes in it’s cells it would be called:

A. Triploidy
B. Tetraploidy
C. Trisomy
D. Monosomy

A

A. Triploidy

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19
Q

If a human has 92 chromosomes in it’s cells it would be called:

A. Triploidy
B. Tetraploidy
C. Trisomy
D. Monosomy

A

B. Tetraploidy

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20
Q

_______ is characterized by polydactyly, microcephaly, mental retardation, cleft lip and palate.

A. Patau syndrome
B. Edwards syndrome
C. Down syndrome 
D. Turner syndrome
E. Klinefelter syndrome
A

A. Patau syndrome (trisomy 13)

Patau syndrome (trisomy 13): polydactyly, microcephaly, mental retardation, cleft lip and palate

Edwards syndrome (trisomy 18): Kidney malformations, protruding intestines, mental retardation, small size and micrognathia

Down syndrome (trisomy 21): Maxillary retrognathia, enamel hypoplasia, irregular placement of teeth, severe periodontal disease, delayed eruption

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21
Q

______ is characterized by Kidney malformations, protruding intestines, mental retardation, small size and micrognathia.

A. Patau syndrome
B. Edwards syndrome
C. Down syndrome 
D. Turner syndrome
E. Klinefelter syndrome
A

B. Edwards syndrome (trisomy 18)

Patau syndrome (trisomy 13): polydactyly, microcephaly, mental retardation, cleft lip and palate

Edwards syndrome (trisomy 18): Kidney malformations, protruding intestines, mental retardation, small size and micrognathia

Down syndrome (trisomy 21): Maxillary retrognathia, enamel hypoplasia, irregular placement of teeth, severe periodontal disease, delayed eruption

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22
Q

______ is characterized by Maxillary retrognathia, enamel hypoplasia, irregular placement of teeth, severe periodontal disease and delayed eruption.

A. Patau syndrome
B. Edwards syndrome
C. Down syndrome 
D. Turner syndrome
E. Klinefelter syndrome
A

C. Down syndrome

Patau syndrome (trisomy 13): polydactyly, microcephaly, mental retardation, cleft lip and palate

Edwards syndrome (trisomy 18): Kidney malformations, protruding intestines, mental retardation, small size and micrognathia

Down syndrome (trisomy 21): Maxillary retrognathia, enamel hypoplasia, irregular placement of teeth, severe periodontal disease, delayed eruption

23
Q

______ is characterized by only containing one X chromosome (XO).

A. Patau syndrome
B. Edwards syndrome
C. Down syndrome 
D. Turner syndrome
E. Klinefelter syndrome
A

D. Turner syndrome

Turner syndrome: missing an X or Y chromosome (XO)

Klinefelter syndrome: individuals w/ at least 2 X chromosomes and one Y chromosome (XXY)

24
Q

________ is characterized by individuals with at least two X and one Y chromosome.

A. Patau syndrome
B. Edwards syndrome
C. Down syndrome 
D. Turner syndrome
E. Klinefelter syndrome
A

E. Klinefelter syndrome

Turner syndrome: missing an X or Y chromosome (XO)

Klinefelter syndrome: individuals w/ at least 2 X chromosomes and one Y chromosome (XXY)

25
Q

Which of the following is characterized by individuals with undeveloped ovaries, short stature and webbing of the neck?

A. Patau syndrome
B. Edwards syndrome
C. Down syndrome 
D. Turner syndrome
E. Klinefelter syndrome
A

D. Turner syndrome

26
Q

Which of the following is characterized by individuals with a male appearance, underdeveloped male genitals and long limbs?

A. Patau syndrome
B. Edwards syndrome
C. Down syndrome 
D. Turner syndrome
E. Klinefelter syndrome
A

E. Klinefelter syndrome

27
Q

Which of the following is the syndrome of trisomy 13?

A. Patau syndrome
B. Edwards syndrome
C. Down syndrome 
D. Turner syndrome
E. Klinefelter syndrome
A

A. Patau syndrome

Patau syndrome = trisomy 13

Edwards syndrome = trisomy 18

Down syndrome = trisomy 21

28
Q

_______ syndrome is a trisomy 18.

A

Edwards syndrome

29
Q

Which of the following is associated with cleft lip and palate?

A. Patau syndrome
B. Edwards syndrome
C. Down syndrome 
D. Turner syndrome
E. Klinefelter syndrome
A

A. Patau syndrome

30
Q

Which of the following is associated with maxillary retrognathia and enamel hypoplasia?

A. Patau syndrome
B. Edwards syndrome
C. Down syndrome 
D. Turner syndrome
E. Klinefelter syndrome
A

C. Down syndrome

31
Q

Which of the following is associated with enamel hypoplasia?

A. Patau syndrome
B. Edwards syndrome
C. Down syndrome 
D. Turner syndrome
E. Klinefelter syndrome
A

C. Down syndrome

32
Q

Which of the following is associated with micrognathia (small jaw)?

A. Patau syndrome
B. Edwards syndrome
C. Down syndrome 
D. Turner syndrome
E. Klinefelter syndrome
A

B. Edwards syndrome

33
Q

Which of the following is associated with taurodontism (a condition of molars wherein the body of the tooth and pulp chamber is enlarged vertically at the expense of the roots).

A. Patau syndrome
B. Edwards syndrome
C. Down syndrome 
D. Turner syndrome
E. Klinefelter syndrome
A

E. Klinefelter syndrome

Patau syndrome = cleft lip and palate

Edwards syndrome = micrognathia

Down syndrome = enamel hypoplasia, maxillary retrognathia

Klinefelter syndrome = Taurodontism

34
Q

Which of the following is an example of trisomy?

A. Fragile X
B. Turner syndrome
C. Klinefelter syndrome
D. Cri du chat syndrome

A

C. Klinefelter syndrome

35
Q

Which of the following is an example of monosomy?

A. Patau syndrome
B. Edwards syndrome
C. Down syndrome 
D. Turner syndrome
E. Klinefelter syndrome
A

D. Turner syndrome

36
Q

Which of the following is NOT labeled as an autosomal aneuploidy?

A. Patau syndrome
B. Edwards syndrome
C. Down syndrome
D. Turner syndrome

A

D. Turner syndrome

Turner syndrome = XO

37
Q

Which of the following is NOT considered an autosomal DOMINANT disorder?

A. Cystic fibrosis
B. Marfan syndrome
C. Ehlers-Danlos syndrome
D. Treacher Collins syndrome

A

A. Cystic fibrosis (autosomal recessive)

38
Q

_______ is a disorder of connective issues, manifested principally by changes in the skeleton, eyes, and cardiovascular system.

A. Cystic fibrosis
B. Marfan syndrome
C. Ehlers-Danlos syndrome
D. Treacher Collins syndrome

A

B. Marfan syndrome

Features:

  • unusually tall with long extremities
  • bilateral subluxation of the eye lens (ectopica lentis)
  • cardiovascular lesions: mitral valve prolapse
39
Q

_______ is a group of diseases characterized by defects in collagen synthesis structure (ECM).

A. Cystic fibrosis
B. Marfan syndrome
C. Ehlers-Danlos syndrome
D. Treacher Collins syndrome

A

C. Ehlers-Danlos syndrome

Features:

  • skin and joint hypermobility
  • easy bruising
40
Q

_______ results from the abnormal development from the first and second branchial arches.

A. Cystic fibrosis
B. Marfan syndrome
C. Ehlers-Danlos syndrome
D. Treacher Collins syndrome

A

D. Treacher Collins syndrome

Features:

  • underdeveloped mandible
  • downward slanting palpebral fissures
  • deformed ears
  • possible cleft palate
41
Q

Which of the following is associated with increased risk of caries and cleft palate?

A. Cystic fibrosis
B. Marfan syndrome
C. Ehlers-Danlos syndrome
D. Treacher Collins syndrome

A

B. Marfan syndrome

Marfan syndrome: increased risk of caries and cleft palate

Ehlers-Danlos syndrome: Gorlin’s sign (able to touch nose with tongue)

Treacher Collins syndrome: underdeveloped mandible

42
Q

Which of the following is associated with Gorlin’s sign?

A. Cystic fibrosis
B. Marfan syndrome
C. Ehlers-Danlos syndrome
D. Treacher Collins syndrome

A

C. Ehlers-Danlos syndrome

Marfan syndrome: increased risk of caries and cleft palate

Ehlers-Danlos syndrome: Gorlin’s sign (able to touch nose with tongue)

Treacher Collins syndrome: underdeveloped mandible

43
Q

Which of the following is associated with underdeveloped mandible?

A. Cystic fibrosis
B. Marfan syndrome
C. Ehlers-Danlos syndrome
D. Treacher Collins syndrome

A

D. Treacher Collins syndrome

Marfan syndrome: increased risk of caries and cleft palate

Ehlers-Danlos syndrome: Gorlin’s sign (able to touch nose with tongue)

Treacher Collins syndrome: underdeveloped mandible

44
Q

Which of the following is an autosomal RECESSIVE disorder?

A. Cystic fibrosis
B. Marfan syndrome
C. Ehlers-Danlos syndrome
D. Treacher Collins syndrome

A

A. Cystic fibrosis

note: all other answer choices are dominant

45
Q

__________ is the percentage of individuals with a specific genotype who also express the expected phenotype.

A

Penetrance

Penetrance = express the expected phenotype

Expressivity = variation in phenotype

46
Q

________ is the variation in a phenotype associated with a particular genotype.

A

Expressivity

Penetrance = express the expected phenotype

Expressivity = variation in phenotype

47
Q

Which of the following demonstrate incomplete penetrance?

A. MODY (type of diabetes)
B. Huntington disease
C. Recklinghausen disease

A

A. MODY (type of diabetes)

MODY = incomplete penetrance (50%)
Huntington = complete penetrance (100%)
Recklinghausen = Expressivity
48
Q

Which of the following demonstrates expressivity?

A. MODY (type of diabetes)
B. Huntington disease
C. Recklinghausen disease

A

C. Recklinghausen disease

MODY = incomplete penetrance (50%)
Huntington = complete penetrance (100%)
Recklinghausen = Expressivity

note: Recklinghausen = malignant neurofibromas

49
Q

Which of the following is NOT a lysosomal storage disease?

A. Gaucher’s disease
B. Tay-Sachs disease
C. Niemann-Pick disease
D. von Gierke’s disease

A

D. von Gierke’s disease

Lysosomal storage diseases:

  • Gaucher’s
  • Tay-Sachs
  • Niemann-Pick

Glycogen storage diseases:

  • von Gierke’s disease
  • Pompe’s disease
  • Cori’s disease
  • Anderson’s disease
  • McArdle’s syndrome
50
Q

Which of the following is NOT a glycogen storage disease?

A. von Gierke's disease
B. Pompe's disease
C. Cori's disease
D. Anderson's disease
E. Tay-Sachs disease
F. McArdle's syndrome
A

E. Tay-Sachs disease

Lysosomal storage diseases:

  • Gaucher’s
  • Tay-Sachs
  • Niemann-Pick

Glycogen storage diseases:

  • von Gierke’s disease
  • Pompe’s disease
  • Cori’s disease
  • Anderson’s disease
  • McArdle’s syndrome
51
Q

What is the phrase I use to remember what diseases are lysosomal diseases?

A

Niemann-picked Gay Tay

Lysosomal (3)

  • Niemann-Pick disease
  • Gaucher’s disease
  • Tay-Sachs disease
52
Q

What is the acronym I use to remember the 5 glycogen storage diseases?

A

“Von Pompe and Cori Anderson love Mcgriddles but cant store it as glycogen”

Glycogen (5)

  • Von Gierke’s disease
  • Pompe’s disease
  • Cori’s disease
  • Anderson’s disease
  • McArdle’s syndrome
53
Q

Which of the following are sex-linked disorders?

A. Hemophilia A
B. Hemophilia B
C. Duchenne Muscle Dystrophy
D. All of the above

A

D. All of the above

Genetics (7 decks)

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