(M) Abnormalities in Chromosome (2) Flashcards

(61 cards)

1
Q

Numerical Abnormalities

with extra sets of chromosomes; caused by fertilization of an egg by >1 or 2 sperm; not compatible with life

A

Polyploidy

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2
Q

di

A

ck

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3
Q

T or F. Numerical abnormalities ONLY results from loss of whole chromosome.

A

F (gain and loss)

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4
Q

T or F. Triploidy is NOT compatible with life.

A

T

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5
Q

Numerical Abnormality

state of having 2 or more genetically
different cell lines

A

Mixoploidy

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6
Q

T or F. Polyploidy are acquired or somatic type of chromosomal abnormalities based on chromosomal constituents

A

F (mixoploidy)

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7
Q

these are those that arise from
two different zygotes

A

chimera

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8
Q

T or F. Infusion of cells from a twin to another is the same description of Chimera.

A

T

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9
Q

Type of Aneuploidy: state of having a missing a pair of homologs occurring during the preimplementation stage; lethal

A

Nullisomy

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10
Q

Types of Aneuploidy: one chromosome missing; occurs during embryonic stage; lethal and abort in 99% of cases

A

Monosomy

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11
Q

Among this are exception to monosomy except:

A. Monosomy 21
B. Monosomy X
C. Turner Syndrome
D. (45, X)

A

A

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12
Q

T or F. Trisomy occurs during embryonic (3-8 weeks) or fetal development (9-36 weeks) stage

A

T

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13
Q

T or F. Trisomy 21 is lethal and may survive or reach 40 y/o or more.

A

T

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14
Q

What phase in the interphase affects both chromatids?

A

G1

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15
Q

What phase of the cell cycle affects one chromatid?

A

G2

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16
Q

Ways to repair that will stabilize your chromosome

A

joining the two ends or capping end with telomere

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17
Q

What prevent entry of cells with unrepaired chromosome breaks to enter mitosis and it delays mitosis and allows repair of the damaged chromosomes?

A

Checkpoints

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18
Q

Failure of repair leads to?

A

Apoptosis

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19
Q

An incorrectly repaired chromosome will lead to?

A

structural abnormalities

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20
Q

T or F. Cell cycle can halt to undergo repair but an incorrectly repaired chromosome may still be able to pass checkpoints.

A

T

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21
Q

the point where the cells is committed to advance further into the cell cycle without requiring anymore broad signal that initiated cell division.

A

restriction point

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22
Q

What phase of the cell cycle checks for DNA damage, adequacy of cell size, and presence of broad signals for cell proliferation

A

G1 restriction point

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23
Q

T or F. In the S chromosome, there’s a chromosomal duplication and growth in mass

A

F (duplication lang)

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24
Q

What phase of the cell cycle checks for damaged or unduplicated DNA?

A

G2 restriction point

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25
# Forms healed by adding telomere, if near the telomere
single break (terminal deletion)
26
# Forms Balance Translocation
Single break (two chromosomes with a single break they can exchange their broken segments)
27
# Forms ring chromosome formation, duplication, interstitial deletion, inversion, translocation | no. of breaks
Two or three breaks
28
T or F. If 3 breaks, you can have ring chromosome formation because the ends can fuse because they are very sticky, although you can have deletion there; you can also have insterstitial deletion, inversion
F (2 breaks)
29
T or F. If at least 3 breaks, you can have duplication, some breaks in the arms that are being duplicated and other break in the other arm where the duplication will transfer.
T
30
# Forms formed when two telomeres are lost; ends become sticky and adhere/fuse to form a ring
Ring Chromosome
31
# Form more likely due to loss of gametes or genes in the telomeric regions of the chromosome than the ring formation itself
Ring Chromosome
32
T or F. Ring formation can go to the cell cycle because it has been repaired but it is also unstable
T
33
# Form refers to extra chromosomal segment within the same homologous or another non-homologous chromosome
Duplication
34
T or F. Inversion can also occur between two homologous chromosome or non- homologous chromosome
F (duplication)
35
36
# From two breaks - broken portion turned upside down - reattached
inversion
37
inversion of a segment of the p or q arm and does not include the centromere
Paracentric inversion
38
# inversion breaks occur in both short and long arms and includes the centromere in the inverted segment
Pericentric inversion
39
T or F. In inversion, there's loss of genetic materials.
F
40
# Form loss of a segment of a chromosome
Deletion
41
T or F . Terminal end is more common than interstitial deletion.
T
42
# Form 2 breaks between the centromere and telomere à loss à fusion of broken ends to the more proximal segment
Insterstitial deletion
43
T or F. Deletion involves a loss of genetic material regardless of the type of deletion.
T
44
# Translocation involves exchange of genetic materials of non-homologous chromosomes
reciprocal or balanced
45
TOF. Robertsonnian translocation have one break from the chromosome, one break from the other and then exchange of segment of the two chromosomes.
F (balanced)
46
# form involves acrocentric chromosomes which have short p arms called satellites
Robertsonian Translocation
46
TOF. A person cant function even if satellites are lost
F
46
TOF. Miscarriages or spontaneous abortion may also occur in balanced Translocation.
T
47
T or F. In centric fusion there is a loss of genetic materials and formation of 2 long arms.
T
48
Centric fusion except: A. No clinical symptoms B. Lost of mRNA C. Lost of centromere D. Both B and C E. All of the Above
E
49
T or F. In acrocentric chromosomes, there's no clincal symptoms but have increased risk of infertility, spontaneous abortions or chromosomally unbalanced offsprings for carriers
T
50
# Form occurs when the exchange of chromosome material is unequal resulting in loss or gain of genes.
Nonreciprocal or unbalanced translocation
51
T or F. Nonreciprocal or unbalanced translocation does not also cause significant clinical outcomes.
F
52
Chromosomes with 2 identical arms is possible due to?
transverse division (of the centromere or U-type exchange between sister chromatids along the centromere under iso)
53
Try to explain what happened
terminal deletion of 1 healed by the addition of telomere
54
Describe
An unequal crossover or unequal sister chromatid exchange; instertitial deletion
55
Identify abnormality
Paracentric inv.
56
Identify abnormality
Pericentric inversion
57
Final Chromosomes?
1 Dicentric Chromosome and 1 Acentric Chromosome (left) and Stable reciprocal translocation (right)
58
EXCHANGE OF CENTRIC AND ACENTRIC FRAGMENTS leads to?
1 Dicentric Chromosome and 1 Acentric Chromosome.
59