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CTGN 2nd Shift > Q2S2 > Flashcards

Q2S2 Flashcards

1
Q

Which of the following is a cause of aneuploidy?

A. Structure aberrations of chromosomes in mitosis during embryonic development
B. Structural alterations in chromosome sequences after meiosis
C. Nondisjunction during meiosis 2
D. Nondisjunction during telophase of mitosis

A

C

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2
Q

Which of these notations is an example of a notation to indicate the presence of aneuploidy?

A. 2n = 46
B. 2n + 1 = 47
C. 3n = 69
D. None of the above

A

B

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3
Q

Which of the following is the concept related to chromosomal duplication that results in a disease (usually due to a gain of function)?

A. Increased expression of recessive alleles
B. Unbalanced gene dosage
C. Presence of amorphic genes
D. None of the above

A

B

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4
Q

Which of the following is a net positive result of chromosomal duplication as discussed?

A. Is seen in the presence of human chromosome 4 and chimpanzee chromosome 4 where the position of the centromere is moved without length alteration

B. Is seen in human chromosome 2, which seems to mirror the content of 2 separate chromosomes in other primates (46 vs 48)

C. The evolution of fetal hemoglobin as one extra copy of the hemoglobin gene gains new function, while the other allele copy remains normal

D. In the loss of some segments that are known to cause disease during crossing-over

A

C

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5
Q

Which of the following is evolutionarily a result of inversion?

a. Is seen in the presence of human chromosome 4 and chimpanzee chromosome 4 where the position of the centromere is moved without length alteration

b. Is seen in human chromosome 2, which seems to mirror the content of 2 separate chromosomes in other primates (46 vs 48)

c. The evolution of fetal hemoglobin as one extra copy of the hemoglobin gene gains new function, while the other allele remains normal

d. In the loss of some segments that are known to cause disease during crossing-over

A

A

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6
Q

Which of the following is evolutionarily a result of translocation?

a. Is seen in the presence of human chromosome 4 and chimpanzee chromosome 4 where the position of the centromere is moved without length alteration

b. Is seen in human chromosome 2, which seems to mirror the content of 2 separate chromosomes in other primates (46 vs 48)

c. The evolution of fetal hemoglobin as one extra copy of the hemoglobin gene gains new function, while the other allele remains normal

d. In the loss of some segments that are known to cause disease during crossing-over

A

B

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7
Q

Which kind of translocation is also seen in some Down syndrome cases?
a. balanced
b. reciprocal
c. unbalanced
d. Robertsonian

A

D

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8
Q

CMT represents a heterogeneous group of hereditary motor and sensory peripheral neuropathies (HMSN). Demyelinating and axonal forms have been described. Which of the following is the ISCN designation for CMT’s most common form (by genetic heterogeneity)?

a. 15q-
b. t14:21
c. dup (17p12)
d. Chromosome 12 invq2.1.1

A

C

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9
Q

Which of the following is a symptom of 5p-?
a. Compulsive eating
b. Abnormal laryngeal structure
c. Cancer of the eye
d. Nephromas

A

B

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10
Q

In this chromosomal aberration, DINA must break in two places on either side of the aberrant segment and
flip itself but remain in place.

a. Balanced translocation
b. Robertsonian translocation
c. Inversion
d. Deletion

A

C

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11
Q

In inversion, a problem arises because many genes are turned on or off depending on where they are found on the chromosome. What do you call this phenomenon?

a. Dosage
b. Robertsonian translocation
c. Position effect
d. Gene fusion

A

C

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12
Q

Which of the following induces double strand breaks in chromosomes?

a. cosmic rays
b. oncoviruses
c. transposons
d. All of the choices

A

D

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13
Q

Which of the following diseases involves abnormal proliferation of immunoglobulin producing cells and is due to a balanced translocation?

a. Chronic myelogenous leukemia
b. Sickle cell anemia
c. Burkitt’s lymphoma
d. Certain forms of Down Syndrome and their correlated leukemia

A

C

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14
Q

Which of these is incompatible with life?

a. Monosomy X
b. Disomy X
c. Disomy Y
d. Nullisomy X

A

D

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15
Q

Which of the following conditions will manifest a decrease in the chromosome number?

a. Nullisomy
b. Monosomy
c. Either are correct
d. Neither are correct

A

C

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16
Q

A patient was diagnosed with tetrasomic Klinefelter syndrome. A karyotype of the said patient would reveal the presence of how many chromosomes?

a. 47
b. 48
c. 49

A

B

17
Q

Patients with the following conditions will have an additional number of chromosomes, EXCEPT:

a. Turner syndrome
b. Patau syndrome
c. Klinefelter syndrome
d. Down syndrome

A

A

18
Q

All of the following syndromes cause significantly decreased lifespan of affected patients, EXCEPT:

a. Trisomy 13
b. Trisomy 18
c. Trisomy 21
d. None of the above

A

C

19
Q

Which of the following statements is correct regarding Turner syndrome?

a. Male with additional X chromosome
b. Female with additional X chromosome
c. Male with missing X chromosome
d. Female with missing X chromosome

A

D

20
Q

Aberrations among patients with Klinefelter syndrome manifest because of a/an:

a. additional X chromosome
b. additional Y chromosome
c. missing X chromosome
d. missing Y chromosome

A

A

21
Q

Duplications in a chromosome can result in all of the following, except;

a. Increase the number of gene coding regions
b. Increase the number of nucleotide repeats
c. Increase the ploidy of the cell
d. None of the above is a result of duolication.

A

C

22
Q

Due to unbalanced dosage, the prolonged chromosome becomes an allele that codes for more proteins than is necessary or at least in excess of the chromosome with the proper length. Which aberration is more likely to produce the above in its heterozygous form?

a. Duplication
b. Paracentric Inversion
c. Pericentric Inversion
d. None of the above

A

A

23
Q

Which of the following is a symptom of inv autosome 12

a. Compulsive eating
b. Abnormal laryngeal structure
c. Increased height at an early age
d. Abnormal proteins from trinucleotide repeats

A

C

24
Q

Which of the following is more likely to result in having an overactive transcription factor and consequently an increased risk of cancers?

a. 15p-
b. 5p-
c. 13q-
d. AF508

A

C

25
Q

In cases of the genetically inherited disease that comes with an increased risk of nephromas, the chromosomal aberration more likely involved is which of the following?

a. Deletion in the Short arm of the 11th autosome
b. Deletion in the Long arm of the 11th autosome
c. Deletion in the Long arm of the 13th chromosome
d. Deletion in the Long arm of the X chromosome

A

C

26
Q

Which of the following diseases involves abnormal proliferation of immunoglobulin-producing cells and is due to a reciprocal translocation?

a. Chronic myelogenous leukemia
b. Burkitt’s lymphoma
c. Sickle cell anemia
d. Certain forms of Down Syndrome and their correlated leukemia

A

B

27
Q

Which is true of t14;21 chromosomal diseas? (2 answers)

a. Chromosomes involved are both metacentric
b. An example of intrachromosomal translocation
c. There are very obvious loss of genetic information
d. Is a possible cause of trisomy 21

A

C, D

28
Q

It increases transcription factors, promoting chronic uncontrolled growth of hematopoietic cells in the bone marrow.

a. t9;22
b. t14;21
c. t8;14
d. tX SRY;Y

A

A

29
Q

Which of the following is not true of translocations?

a. Translocations cause new linkage patterns to emerge
b. Translocation results in position effect where moved genes are now regulated differently
c. Chromosome deletions often accompany translocations
d. A translocation underlies Prader-Willi syndrome

A

D

CTGN 2nd Shift (5 decks)

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