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MT 6315 (Cytogenetics) > UNIT 5: Rationale > Flashcards

UNIT 5: Rationale Flashcards

1
Q

Which of the following is a cause of aneuploidy?

a. Structural aberrations of chromosomes in mitosis during embryonic development
b. Structural alterations in chromosome sequences after meiosis
c. Nondisjunction during Meiosis II or I
d. Nondisjunction during telophase of mitosis

A

c. Nondisjunction during Meiosis II or I

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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

A

b. 2n +1 = 47

A. normal
C. triploidy

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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

A

b. Unbalanced gene dosage

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4
Q

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

a. Seen in the presence of human chromosome 4 and chimpanzee chromosome 4 where the position of the centromere is moved without length alteration
b. 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. The evolution of fetal hemoglobin as one extra copy of the hemoglobin gene gains new function, while the other allele copy remains normal

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5
Q

Which of the following is evolutionarily a result of inversion?

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

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

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6
Q

Which of the following is evolutionarily a result of translocation?

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

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

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7
Q

Which kind of translocation is also seen in some Down syndrome case?

A

Robertsonian Translocation

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8
Q

CMT represents a heterogenous 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 most common form (by genetic heterogeneity)?

a. 15q-
b. t14:t21
c. dup(17p12)
d. Chromosome 12 invq2.1.1

A

c. dup (17p12)

A. prader-willi
B. down syndrome

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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. Abnormal laryngeal structure

A. 15q-
C. 13q-
D.

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10
Q

In this chromosomal aberration, DNA 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. Inversion

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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

Position effect

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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 above

A

D. all of the above

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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. Burkitt’s lymphoma

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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. Nullisomy X

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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
D. Neither

A

C. Either

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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

48

17
Q

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

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

A

a. Turner (X,0)

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

A

c. Trisomy 21 - small chromosome

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. Female with missing X chromosome

20
Q

Aberrations among patients with Klinefelter syndrome manifest because of an:

a. Additional X
b. Additional Y
c. Missing X
d. Missing Y

A

a. Additional X - male with extra X

21
Q

This simplified notation more likely indicates which of the following chromosomal aberrations?

ABCD*FEEFGH

A

Reverse tandem duplication

22
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

A

c. Increase the ploidy of the cell

23
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

A

a. Duplication

24
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. Increased height at an early age

a. del 15q-
b. del 5p-

25
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. 13q-
c. 5p-
d. △F508

A

b. 13q-

Retinoblastoma (Cancer of the eye)

26
Q

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

A

Deletion in the Long arm (q) of the 13th chromosome

27
Q

Which of the following diseases involved 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

A

b. Burkitt’s lymphoma

28
Q

What is the result of the following changes in the chromosome?

ABCD*EFGH -> ABCGH

A

Resulting chromosome can be lost in meiosis

Pericentromeric deletion

29
Q

Which is true of t14;21 chromosomal disease? Select all that apply.

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

A

c. There are very obvious loss of genetic information (unbalanced)
d. Possible cause of trisomy 21

A. acrocentric
B. interchromosomal

30
Q

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

a. t9;22
b. t14;t21
c. t8;14
d. tX SRYY

A

a. t9;22 (CML)

or t15;17 - APML

B. - CLL
C - Burkitt’s

31
Q

Which of the following is not true of translocations?

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

A

d. A translocation underlies Prader-Willi syndrome

32
Q

Modified True or False:

The inverted segment includes the centromere if a chromosome encounters a paracentric inversion aberration. In the case of pericentric invertion, the inverted segment is located on one arm of the chromosome.

A

None of the statements are correct.

Baliktadddd.

33
Q

Modified True or False:

In the case of reciprocal translocation, an interchange of genetic material between two nonhomologous chromosomes. On the other hand, Robertsonian Translocation refers to the fusion of the long arms of two submetacentric chromosomes and the loss of their short arms.

A

Only the first statement is correct.

Second statement should be acrocentric.

34
Q

The supermale chromosomal syndrome may act on the brain’s limbic system (which regulates man’s most primitive drives, including his impulses toward violence) and somehow help trigger violent criminal acts. Which is the karyotype?

A. XXXY
B. XXY
C. XYY
D. XYX

A

C. XYY

35
Q

Which is true of the following conditions of Trisomy in the karyotype?

A. In humans, this is compatible with life
B. Plants cannot have this kind of ploidy
C. Can be a product of endomitosis
D. This shorthand notation is 2n+7=9

A

C. Can be a product of endomitosis

D. 3N

MT 6315 (Cytogenetics) (11 decks)

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