Q2

Question 1

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 2
d.) Nondisjunction during telophase of mitosis

Answer 1

c.) Nondisjunction during meiosis 2

Question 2

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

Answer 2

b.) 2n + 1 = 47

Question 3

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 expressiom of recessive alleles
b.) unbalanced gene dosage
c.). presence of amorphic genes
d.) none of the above

Answer 3

b.) unbalanced gene dosage

Question 4

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 seperate 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

Answer 4

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

Question 5

Which of the following is evolutionarily as 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 seperate 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

Answer 5

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

Question 6

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 seperate 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

Answer 6

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

Question 7

Which kind of translocation is also seen in Down syndrome cases?

a.) balanced
b.) reciprocal
c.) unbalanced
d.) Robertsonian

Answer 7

d.) Robertsonian

Question 8

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’s most common form (by genetic heterogeneity)?

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

Answer 8

c.) dup (17p12)

Question 9

Which of the following is a symptom of 5p-?

a.) Compulsive eating
b.) Abnormal laryngeal structure
c.) Cancer of the eye
d.) Nephromas

Answer 9

b.) Abnormal laryngeal structure

Question 10

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
d.) Robertsonian translocation
c.) Inversion
d.) Deletion

Answer 10

c.) Inversion

Question 11

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.) Position effect
c.) Robertsonian translocation
d.) Gene fusion

Answer 11

b.) Position effect

Question 12

Which of the following induces double strand breaks in chromosomes?

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

Answer 12

d.) all of the choices

Question 13

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

Answer 13

c.) Burkitt’s lymphoma

Balanced translocation - reciprocal, exchange of genetic materials between two nonhomologous chromosomes

Question 14

Which of these is incompatible with life?

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

Answer 14

d.) Nullisomy X

Question 15

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

Answer 15

c.) Either are correct

Question 16

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
d.) 50

Answer 16

b.) 48

Question 17

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

Answer 17

a.) Turner Syndrome

Question 18

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

Answer 18

c.) Trisomy 21 - small chromosome

Question 19

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

Answer 19

d.) Female with missing X chromosome

Question 20

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

Answer 20

a.) additional X chromosome

Question 21

This simplified notation more likely indicates which of the following chromosomal aberrations?
ABCD* FE EFGH

a.) Inversion
b.) Reverse tandem duplication
c.) Robertsonian translocation
d.) Unbalanced translocation

Answer 21

b.) Reverse tandem duplication

Question 22

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 duplication

Answer 22

c.) Increase the ploidy of the cell

Question 23

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
c.) Paracentric Inversion
c.) Pericentric Inversion
d.) None of the above

Answer 23

a.) Duplication

Question 24

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

Answer 24

c.) Increased height at an early age

Question 25

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

Answer 25

b.) 13q-

Question 26

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

Answer 26

c.) Deletion in the long arm of the 13th chromosome

Question 27

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

Answer 27

b.) Burkitt’s lymphoma

Question 28

What is the result of the following changes in the chromosome?
ABCD*EFGH > ABCDGH

a.) Resulting chromosome loses some information and causes disease
b.) Resulting chromosome loses some information but the individual is normal
c.) Resulting chromosome can be lost in meiosis
d.) Resulting chromosome has a gain of function due to increased dosage

Answer 28

c.) Resulting chromosome can be lost in meiosis

Question 29

Which is true of t14;21 (CLL) chromosomal disease?

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

Answer 29

C & D

Question 30

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

Answer 30

a.) t9;22 - CML

Question 31

Which of the following is not true if 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
e.) A and C

Answer 31

d.) A translocation underlies Prader-Willi syndrome

Question 32

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

a.) Only the first statement is correct
b.) Only the second statement is correct
c.) Both of the statements are correct
d.) None of the statements are correct

Answer 32

d.) None of the statements are correct

Question 33

In the case of reciprocal translocation, an interchange of genetic material between two nonhomologous chromosomes happend. 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
b.) Only the second statement is correct
c.) Both of the statements are correct
d.) None of the statements are correct

Answer 33

a.) Only the first statement is correct

Question 34

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

a.) XXXY
b.) XXY
c.) XYY
d.) XYX

Answer 34

c.) XYY

Question 35

Which is true of the following condition as seen in the karyotype (trisomy)?

a.) In humans, this is compatible with life
b.) Plants cannot have this kind of ploidy
c.) Can be a product of endomitosis
d.) The shorthand notation is 2n+7=9

Answer 35

c.) Can be a product of endomitosis