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WorksheetsCYTO - 3 Chromosomal Abnormalities
Total questions: 138
Worksheet time: 1hrs 10mins
Name
Class
Date
1.
Abnormalities in chromosome is due to the changes resulting in a _ alteration of the chromosomes
a)
visible
b)
invisible
c)
Both are Correct
d)
None are Correct
2.
Abnormalities in chromosome is produced by EXCEPT
a)
DNA mutation
b)
misrepair of broken chromosomes,
c)
improper recombination,
d)
erroneous segregation (nondisjunction/anaphase lag) of chromosomes during mitosis or meiosis
3.
Abnormal number (aneuploidy) or structure of chromosome
a)
aneuploidy
b)
polyploidy
c)
mixoploidy
4.
Nondisjunction occurs when a homologous pair of chromosome fails to _ during cell division
a)
separate
b)
mix
c)
unwrapped
5.
when it occurs during gametogenesis gametes either with _ chromosome with fertilization by normal gametes
a)
(n+1)(n-1)
b)
(2n+1)
c)
(2n-1)
d)
All are correct
6.
Trisomic
a)
(2n+1)
b)
(n+1)(n-1)
c)
(2n-1)
7.
Monosomic
a)
(2n-1)
b)
(2n+1)
c)
(n+1)(n-1)
8.
failure of the chromosomes to disjoin and pass to opposite poles
a)
Meiotic Nondisjunction
b)
Mitotic Nondisjunction
c)
Meiotic Disjunction
d)
Mitotic Disjunction
9.
Meiotic nondisjuction is the _ cause of chromosomal abnormalities
a)
major
b)
minor
c)
all
d)
not a
10.
_% of meiotic non-disjunction occurs in?
a)
75%, oogenesis
b)
75%, spermatogenesis
c)
25% oogenesis
d)
25%, spermatogenesis
11.
Probability of Meiotic Nondisjunction increases with
a)
maternal age
b)
paternal age
c)
both are correct
d)
none are correct
12.
almost _% occur in the first meiotic division
a)
80
b)
75
c)
70
d)
65
13.
Non-disjunction at meiosis 2 produces?
a)
2 Normal, 1 Trisomic, 1 Monosomic
b)
2 Trisomic, 2 Monosomic
c)
1 Normal, 2 Trisomic, 1 Monosomic
d)
1 Normal, 1 Trisomic, 2 Monosomic
14.
Non-disjunction occurs at what phase
a)
Anaphase
b)
Interphase
c)
Metaphase
d)
Prophase
15.
In gametogenesis, 1 round of DNA replication produces
a)
4 haploid cells
b)
2 diploid cells
c)
4 diploid cells
d)
2 haploid cells
16.
haploid cells are?
a)
non-identical
b)
identical
c)
not identifiable
17.
In the stage of Spermatogonium and oogonium, how many cells are there?
a)
1 cell
b)
2 cells
c)
4 cells
18.
In the stage of primary sperma/oocyte, how many cells are there?
a)
1 cell
b)
2 cells
c)
4 cells
19.
In the stage of secondary spermato/oocyte, how many cells are there?
a)
2 cells
b)
1 cell
c)
4 cells
20.
In the stage of spermatids / ootids, how many cells are there
a)
4 cells
b)
2 cells
c)
1 cell
21.
The gametogenesis of sperm produces
a)
4 sperms
b)
1 ovum
c)
3 polar bodies
d)
4 ovums
22.
The gametogenesis of ovum produces EXCEPT
a)
4 ovums
b)
1 ovum
c)
3 polar bodies
23.
Associated with 4-5x increase mutation
a)
increasing paternal age
b)
increasing maternal age
c)
decreasing paternal age
d)
decreasing maternal age
24.
Increasing paternal age is associated with 4-5x increase mutation rate during spermatogenesis for some _ disorders (due to single gene mutations)
a)
Mendelian
b)
Non-Mendelian
25.
Increasing paternal age is associated with 4-5x increase mutation rate during spermatogenesis for some Mendelian disorders (due to _ mutations)
a)
single gene mutation
b)
multiple gene mutation
26.
not associated with higher rate of mutation
a)
increasing maternal age
b)
increasing paternal age
c)
decreasing paternal age
d)
decreasing maternal age
27.
one homologous chromosome in meiosis or one chromatid in mitosis lags behind and is left out of the cell nucleus this chromosome is lost one normal cell + one with monosom
a)
Anaphase lag
b)
Metaphase Lag
c)
Telophase Lag
d)
Prophase Lag
28.
compatible with life but are usually associated with variable degrees of phenotypic abnormalities
a)
Sex Chromosomes
b)
Autosomes
c)
Both are Correct
d)
Neither are Correct
29.
enerally represents loss of too much genetic materials to allow live birth or even embryogenesis, but a number of autosomal trisomies do allow survival
a)
Autosomes
b)
Sex Chromosomes
c)
Both are Correct
d)
Neither are Correct
30.
enerally represents loss of too much genetic materials to allow live birth or even embryogenesis, but a number of autosomal trisomies do allow survival except?
a)
Trisomy 21
b)
Trisomy 18
c)
Monosomy 21
d)
Monosomy 18
31.
Normal count EXCEPT
a)
All are correct
b)
46 chromosomes
c)
22 homologous pairs of autosomes
d)
2 sex chromosomes (XX or XY)
32.
All are completely male EXCEPT
a)
XXY
b)
XY
c)
Both are Correct
d)
Neither are Correct
33.
standard arrangement of a photographed or imaged stained metaphase spread in which the chromosome pairs are arranged in order of decreasing length
a)
Karyotype
b)
Karyogram
c)
Karyograph
34.
Xp21.3 - chromosome
a)
X
b)
p
c)
2
d)
1
e)
3
35.
Xp21.3 - arm
a)
p
b)
X
c)
2
d)
1
e)
3
36.
Xp21.3 - region
a)
2
b)
p
c)
X
d)
1
e)
3
37.
Xp21.3 - band
a)
1
b)
p
c)
2
d)
X
e)
3
38.
Xp21.3 - sub-band
a)
3
b)
p
c)
2
d)
1
e)
X
39.
Counting of bands or region starts
a)
nearest the centromere
b)
farthest from centromere
c)
nearest the upper telomere
d)
nearest the lower telomere
40.
Most chromosomal abnormalities occur as an accident __
a)
in the egg or sperm in every cell of the body
b)
some part of the body after conception
41.
mosaicsm
a)
some part of the body after conception
b)
in the egg or sperm in every cell of the body
42.
Chromosomal abnormality can be inherited as new mutations from?
a)
All are correct
b)
parent
c)
acquired de novo
d)
none are correct
43.
Triploidy
a)
69,XXY
b)
46,XXY
c)
23,XXY
44.
Ovum fertilized by two sperms
a)
Triploidy
b)
Trisomy
c)
Monosomy
d)
Mosaicism
45.
gain of 1 chromosome as extra copy
a)
Trisomy
b)
Triploidy
c)
Monosomy
d)
Mosaicism
46.
loss of 1 chromosome
a)
Monosomy
b)
Trisomy
c)
Triploidy
d)
Mosaicism
47.
one with trisomy, and one normal
a)
Mosaicism
b)
Trisomy
c)
Monosomy
d)
Triploidy
48.
69,XXX
a)
Triploidy
b)
Trisomy
c)
Monosomy
d)
Mosaicism
49.
47,XX,+21
a)
Trisomy
b)
Triploidy
c)
Monosomy
d)
Mosaicism
50.
45,X
a)
Monosomy
b)
Trisomy
c)
Triploidy
d)
Mosaicism
51.
47,XXX / 46,XX
a)
Mosaicism
b)
Trisomy
c)
Monosomy
d)
Triploidy
52.
46,XY,del(4)(p16.3)
a)
terminal deletion
b)
interstitial deletion
c)
paracentric inversion
d)
duplication
e)
insertion
53.
46,XX,del(5)(q13q33)
a)
interstitial deletion
b)
terminal deletion
c)
paracentric inversion
d)
duplication
e)
insertion
54.
46,XY,inv(11)(p11p15)
a)
paracentric inversion
b)
interstitial deletion
c)
terminal deletion
d)
duplication
e)
insertion
55.
46,XX,dup(5)(q11.3q14)
a)
duplication
b)
interstitial deletion
c)
paracentric inversion
d)
terminal deletion
e)
insertion
56.
46,XX,ins(2)(p13q21q31)
a)
insertion
b)
interstitial deletion
c)
paracentric inversion
d)
duplication
e)
terminal deletion
57.
46,XY,r(7)(p22q36)
a)
ring chromosome
b)
balanced reciprocal translocation
c)
robertsonian translocation
58.
46,XX,t(2;6)(q35;p21.3)
a)
balanced reciprocal translocation
b)
ring chromosome
c)
robertsonian translocation
59.
45,XY,der(14;21) (q10;q10)
a)
robertsonian translocation
b)
balanced reciprocal translocation
c)
ring chromosome
60.
Found in all cells of the body
a)
Constitutional Abnormality
b)
Somatic or acquired abnormality
61.
Occurs very early in development (Meiosis 1)
a)
Constitutional Abnormality
b)
Somatic or acquired abnormality
62.
Due to defect in sperm or egg, anomalous
a)
Constitutional Abnormality
b)
Somatic or acquired abnormality
63.
fertilization, or abnormal episode in early embryo
a)
Constitutional Abnormality
b)
Somatic or acquired abnormality
64.
Present only in certain tissues or cells
a)
Somatic or acquired abnormality
b)
Constitutional Abnormality
65.
Cell types with different chromosome compositions
a)
Somatic or acquired abnormality
b)
Constitutional Abnormality
66.
Mosaic
a)
Somatic or acquired abnormality
b)
Constitutional Abnormality
67.
Chimera
a)
Somatic or acquired abnormality
b)
Constitutional Abnormality
68.
Abnormalities in chromosomes are produced by the following, EXCEPT:
a)
DNA mutation
b)
Erroneous segregation during cell division
c)
Improper recombination
d)
Misrepair of broken chromosomes
69.
Nondisjunction that occurs during meiosis il will not result in which of the tollowing chromosome number in the zygote?<br />Normal
a)
Nullisomy
b)
Trisomy
c)
Monosomy
d)
Normal
70.
Meiotic nondisjunction is more commonly seen among which of the following?
a)
Increasing maternal age
b)
increasing paternal age
c)
post-radiation in the young
d)
maternal infection
71.
Single gene mutation is increased in which of the following?
a)
Both
b)
oogenesis in elderly women
c)
spermatogenesis in elderly men
d)
neither
72.
individuals with a normal set of chromosomes; no extra or missing; normal human somatic cells are diploid, with 2 sets of 23 chromosomes
a)
Euploidy
b)
Polyploidy
c)
Mixoploidy
d)
Aneuploidy
73.
with extra sets of chromosomes; caused by fertilization of an egg by 1 sperm; not compatible with life;
a)
Polyploidy
b)
Euploidy
c)
Mixoploidy
d)
Aneuploidy
74.
2 or more genetically different cell lines;
a)
Mixoploidy
b)
Polyploidy
c)
Euploidy
d)
Aneuploidy
75.
with extra or missing chromosome
a)
Aneuploidy
b)
Polyploidy
c)
Mixoploidy
d)
Euploidy
76.
with two cell populations originating from the same zygote
a)
Mosaic
b)
Chimera
77.
arise from two different zygotes
a)
Chimera
b)
Mosaic
78.
missing a pair of homologs occurring during the preimplantation stage; lethal
a)
Nullisomy
b)
Monosomy
c)
Trisomy
79.
ne chromosome missing; occurs during embryonic stage; lethal and abort in 99% of cases
a)
Monosomy
b)
Nullisomy
c)
Trisomy
80.
gain of one chromosome; occurs during embryonic (1 • wks) or fetal (9 36 wks) stage; may be lethal
a)
Trisomy
b)
Monosomy
c)
Nullisomy
81.
gain of one chromosome; occurs during embryonic (1 • wks) or fetal (9 36 wks) stage; may be lethal; Exception:
a)
Trisomy 21
b)
Monosomy X (Turner Syndrome)
82.
one chromosome missing; occurs during embryonic stage; lethal and abort in 99% of cases; Exception:
a)
Monosomy X (Turner Syndrome)
b)
Trisomy 21
83.
Aneuploidy arises from:
a)
Both are correct
b)
Anaphase lag only
c)
Nondysjunction only
d)
Both are incorrect
84.
Breaks in chromosomes occur as a result of damage a to DNA by radiation or chemicals or as a consequence of recombination events
a)
Structural chromosomal abnormalities
b)
Numerical chromosomal abnormalities
85.
May occur at G1 (affects both chromatids) or G2 (affects one chromatid) phase of cell cycle
a)
Structural chromosomal abnormalities
b)
Numerical chromosomal abnormalities
86.
Enzyme systems in the cell recognize and repair broken chromosomes
a)
Structural chromosomal abnormalities
b)
Numerical chromosomal abnormalities
87.
Repair can be one of the following
a)
Both are correct
b)
Joining the two ends
c)
capping with telomere
d)
Both are incorrect
88.
Failure of repair will result to apoptosis which is accidental cell death
a)
false
b)
true
89.
formed when two telomeres are lost; ends become sticky and adhere/fuse to form a ring
a)
Ring Chromosome
b)
Duplication
c)
Inversion
d)
Deletion
e)
Translocation
90.
refers to extra chromosomal segment within the same homologous or another non- homologous chromosome
a)
Duplication
b)
Ring Chromosome
c)
Inversion
d)
Deletion
e)
Translocation
91.
two breaks broken portion turned upside down and reattached (No loss or gain of genetic material - inversion carriers, normal)
a)
Inversion
b)
Duplication
c)
Ring Chromosome
d)
Deletion
e)
Translocation
92.
loss of a segment of a chromosome
a)
Deletion
b)
Duplication
c)
Inversion
d)
Ring Chromosome
e)
Translocation
93.
transfer of a chromosome segment to another chromosome
a)
Translocation
b)
Duplication
c)
Inversion
d)
Deletion
e)
Ring Chromosome
94.
inversion of a segment of the p or q arm and does not include the centromere
a)
Paracentric Inversion
b)
Pericentric Inversion
c)
Terminal deletion
d)
Interstitial Deletion
e)
Isochromosome
95.
breaks occur in both short and long arms and includes the centromere in the inverted segment
a)
Pericentric Inversion
b)
Paracentric Inversion
c)
Terminal deletion
d)
Interstitial Deletion
e)
Isochromosome
96.
end in most cases, e.g., del(7)(q35)
a)
Terminal deletion
b)
Pericentric Inversion
c)
Paracentric Inversion
d)
Interstitial Deletion
e)
Isochromosome
97.
within, of p or q arm, e.g., del(10 (q26.1q26.3); rare<br />2 breaks between the centromere and telomere = Loss/deleted = fusion of broken ends
a)
Interstitial Deletion
b)
Pericentric Inversion
c)
Terminal deletion
d)
Paracentric Inversion
e)
Isochromosome
98.
chromosomes with two identical arms;<br />arms mirror image of each other; both p or q arms<br />due to transverse division of the centromere or U-type exchange between sister chromatids along the centromere
a)
Isochromosome
b)
Pericentric Inversion
c)
Terminal deletion
d)
Interstitial Deletion
e)
Paracentric Inversion
99.
involves exchange of genetic materials of non-homologous chromosomes
a)
Reciprocal or Balanced Translocation
b)
Robertsonian Translocation
c)
Nonreciprocal or Unbalanced Translocation
100.
No loss or gain of chromosomes but with gene rearrangement = physically and mentally normal
a)
Reciprocal or Balanced Translocation
b)
Robertsonian Translocation
c)
Nonreciprocal or Unbalanced Translocation
101.
Occ'ly, clinically abnormal carriers, when chromosome breaks occurs within gene = abnormal protein
a)
Reciprocal or Balanced Translocation
b)
Robertsonian Translocation
c)
Nonreciprocal or Unbalanced Translocation
102.
Carriers may produce gamete with chromosome imbalance = offsprings with chromosomal abnormality = pave the way for investigation of parent's chromosomes
a)
Reciprocal or Balanced Translocation
b)
Robertsonian Translocation
c)
Nonreciprocal or Unbalanced Translocation
103.
Miscarriages or spontaneous abortion may also occur
a)
Reciprocal or Balanced Translocation
b)
Robertsonian Translocation
c)
Nonreciprocal or Unbalanced Translocation
104.
involves acrocentric chromosomes which have short p arms called satellites
a)
Robertsonian Translocation
b)
Reciprocal or Balanced Translocation
c)
Nonreciprocal or Unbalanced Translocation
105.
The long arm of one acrocentric chromosome attaches to the long arm of another acrocentric chromosome chromosome with two long arms
a)
Robertsonian Translocation
b)
Reciprocal or Balanced Translocation
c)
Nonreciprocal or Unbalanced Translocation
106.
The two p arms or satellites are lost because they are not a attached to a spindle fiber during mitosis
a)
Robertsonian Translocation
b)
Reciprocal or Balanced Translocation
c)
Nonreciprocal or Unbalanced Translocation
107.
Total chromosome is 45 due to fusion of the two chromosomes
a)
Robertsonian Translocation
b)
Reciprocal or Balanced Translocation
c)
Nonreciprocal or Unbalanced Translocation
108.
Acrocentric chromosomes are 13, 14, 15, 21 and 22 with short arms (satellites) made up of rRNA
a)
Robertsonian Translocation
b)
Reciprocal or Balanced Translocation
c)
Nonreciprocal or Unbalanced Translocation
109.
A person can function even if several satellites are lost
a)
Robertsonian Translocation
b)
Reciprocal or Balanced Translocation
c)
Nonreciprocal or Unbalanced Translocation
110.
No clinical symptoms, lost of mRNA and centromere only, but have increased risk of infertility, spontaneous abortions or chromosomally unbalanced offsprings for carriers
a)
Robertsonian Translocation
b)
Reciprocal or Balanced Translocation
c)
Nonreciprocal or Unbalanced Translocation
111.
occurs when the exchange of chromosome material is unequal resulting in loss or gain of genes
a)
Nonreciprocal or Unbalanced Translocation
b)
Robertsonian Translocation
c)
Reciprocal or Balanced Translocation
112.
causes significant clinical outcomes
a)
Nonreciprocal or Unbalanced Translocation
b)
Robertsonian Translocation
c)
Reciprocal or Balanced Translocation
113.
Nondysjunction occurring during gametogenesis will produce gametes with which of the following chromosome numbers?
a)
n - 1 and n + 1
b)
2n - 1 and 2n + 1
c)
Normal
114.
Which of the following karyotypes is associated with Down syndrome?
a)
46,XX,der(14;21)(q10q10)+21
b)
45,XY,der(14;21)(q10q10)
c)
Both are Correct
d)
Neither are Correct
115.
Which of the following karyotypes shows an interstitial deletion?
a)
46,XX,del(8)(p12.3p13.1)
b)
45,XX,del(8)
c)
45,X
d)
46,XX,del(4)(p12.3)
116.
Which of the following chromosomal structural abnormalities involve loss of genetic information?
a)
Ring Chromosome
b)
Paracentric Inversion
c)
Pericentric inversion
d)
Balanced translocation
117.
In which of the following instance of chromosomal accidents do mosaicism occur?
a)
After conception
b)
after birth
c)
during oogenesis
d)
during spermatogenesis
118.
Anaphase lag is caused by which of the following? <br />
a)
Improper spindle formation
b)
Improper cell division
c)
Improper migration during metaphase
d)
Spindle mutation
119.
Nondysjunction occurring during meiosis II will produce zygotes with which of the following chromosomes numbers?
a)
All are correct
b)
Trisomy
c)
Normal
d)
Monosomy
e)
All are incorrect
120.
Which of the following can lead to abnormalities in chromosome number?
a)
Erroneous segregation
b)
Improper recombination
c)
Misrepair of broken chromosome
d)
Mutation
121.
Which is the sub-band in this karyotype, 46,XX,(12) (p23.1)?
a)
1
b)
2
c)
12
d)
3
122.
Higher rate of mutation for some Mendelian disorders is associated with which of the following?
a)
increasing paternal age
b)
increasing maternal age
c)
both are correct
d)
none are correct
123.
which of the following karyotypes is a triploidy
a)
69,XXX
b)
47,XXX
c)
47,XX,+21
124.
Which of the following is true of meiotic nondisjunction? <br />
a)
increases with increase maternal age
b)
minor cause of chromosomal abnormalities
c)
80% occurs during second meiotic division
d)
75% occurs during spermatogenesis
125.
Which of the following is the chromosomal abnormality present in this karyotype, 46,XX,inv(9) (p16q12.3)? <br />
a)
pericentric inversion
b)
paracentric inversion
c)
terminal inversion
d)
interstitial inversion
126.
Which of the following is true of this patient’s karyotype, 47,XY, +21?
a)
has extra chromosome 21
b)
phenotypically normal
c)
is a female
d)
has normal chromosome complement
127.
Which of the following is not compatible with livebirth or even embryogenesis? <br />
a)
monosomy of autosome
b)
trisomy of autosome
c)
monosome of sex chromosome
d)
trisomy of sex chromosome
128.
Which of the following karyotypes shows the presence of aneuploidy? <br />
a)
47,XX,+21 <br />
b)
46,XY,dup(8)(p21.3p25.2)
<br />
c)
46,XY/47,XY,+21
<br />
d)
46,XX,t(14;21)(q10;q10)+21 <br />
129.
Anaphase lag during mitosis of an autosome will lead to formation of a daughter cell with which of the following abnormalities? <br />
a)
With 1 less chromosome
b)
With 1 more chromosome
130.
Nondysjunction is most common during which of the following situations?
a)
oogenesis in elderly female
b)
oogenesis in young female
c)
spermatogenesis in young male
d)
spermatogenesis in elderly male
131.
Nondysjunction most frequently occurs during which of the following phases of development? <br />
a)
Meiosis I
b)
Meiosis II
c)
Fertilization
d)
Embryogenesis
132.
How many per cent (%) of the zygotes formed by fertilization of an egg by a normal gamete, if nondysjubction occurred during meiosis I, will be normal? <br />
a)
0
b)
75
c)
50
d)
100
133.
Which of the following is not true of isochromosome formation?
a)
The most commonly involved is Y chromosome
b)
The arms are mirror image of each other
c)
Due to transverse division of the centromere
<br />
d)
Produces two long arms and two short arms
134.
Which of the following chromosomes is not acrocentric?
a)
16
b)
15
c)
14
d)
13
135.
Which of the following is true of Robertsonian translocation?
a)
Result in the formation of a chromosome with two long arms
b)
Involves fusion of the long arm and short arm of two nonhomologs
<br />
c)
Involve individual has phenotypic abnormalities
d)
Total number of chromosomes is 46
136.
When a break in the chromosome affects both chromatids, it can be assumed that the break occurred during which of the following phases of the cell cycle? <br />
a)
G1
b)
G2
c)
M
d)
S
137.
Which of the following forms of aneuploidy occurs during the preimplantation stage, lethal and characterized by tow missing homologous chromosomes? <br />
a)
Nullisomy
b)
Monosomy
c)
Trisomy
d)
None of these
138.
Which of the following structural chromosomal abnormalities is also a repair mechanism in the presence of chromosomal damage? <br />
a)
Translocation
b)
Inversion
c)
Deletion
d)
Ring formation
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