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Cytogenetics > (M) Abnormalities in Chromosome (2) > Flashcards

(M) Abnormalities in Chromosome (2) Flashcards

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
Q

Forms

healed by adding telomere, if near the telomere

A

single break (terminal deletion)

26
Q

Forms

Balance Translocation

A

Single break (two chromosomes with a single break they can exchange their broken segments)

27
Q

Forms

ring chromosome formation, duplication, interstitial deletion, inversion, translocation

no. of breaks

A

Two or three breaks

28
Q

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

A

F (2 breaks)

29
Q

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.

A

T

30
Q

Forms

formed when two telomeres are lost; ends become sticky and adhere/fuse to form a ring

A

Ring Chromosome

31
Q

Form

more likely due to loss of gametes or genes
in the telomeric regions of the chromosome
than the ring formation itself

A

Ring Chromosome

32
Q

T or F. Ring formation can go to the cell cycle because it has been repaired but it is also unstable

A

T

33
Q

Form

refers to extra chromosomal segment within the same homologous or another non-homologous chromosome

A

Duplication

34
Q

T or F. Inversion can also occur between two
homologous chromosome or non-
homologous chromosome

A

F (duplication)

35
Q
A
36
Q

From

two breaks - broken portion turned
upside down - reattached

A

inversion

37
Q

inversion of a segment of the p or q arm and does not include the centromere

A

Paracentric inversion

38
Q

inversion

breaks occur in both short and long arms and includes the centromere in the inverted segment

A

Pericentric inversion

39
Q

T or F. In inversion, there’s loss of genetic materials.

A

F

40
Q

Form

loss of a segment of a chromosome

A

Deletion

41
Q

T or F . Terminal end is more common than interstitial deletion.

A

T

42
Q

Form

2 breaks between the centromere and telomere à loss à fusion of broken ends to the more proximal segment

A

Insterstitial deletion

43
Q

T or F. Deletion involves a loss of genetic material regardless of the type of deletion.

A

T

44
Q

Translocation

involves exchange of genetic materials of non-homologous chromosomes

A

reciprocal or balanced

45
Q

TOF. Robertsonnian translocation have one break from the chromosome, one break from the other and then exchange of segment of the two chromosomes.

A

F (balanced)

46
Q

form

involves acrocentric chromosomes which have short p arms called satellites

A

Robertsonian Translocation

46
Q

TOF. A person cant function even if satellites are lost

A

F

46
Q

TOF. Miscarriages or spontaneous abortion may also occur in balanced Translocation.

A

T

47
Q

T or F. In centric fusion there is a loss of genetic materials and formation of 2 long arms.

A

T

48
Q

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

A

E

49
Q

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

A

T

50
Q

Form

occurs when the exchange of chromosome material is unequal resulting in loss or gain of genes.

A

Nonreciprocal or unbalanced
translocation

51
Q

T or F. Nonreciprocal or unbalanced
translocation does not also cause significant clinical outcomes.

A

F

52
Q

Chromosomes with 2 identical arms is possible due to?

A

transverse division (of the centromere or U-type exchange between sister chromatids along the centromere under iso)

53
Q

Try to explain what happened

A

terminal deletion of 1 healed by the addition of telomere

54
Q

Describe

A

An unequal crossover or unequal sister chromatid exchange; instertitial deletion

55
Q

Identify abnormality

A

Paracentric inv.

56
Q

Identify abnormality

A

Pericentric inversion

57
Q

Final Chromosomes?

A

1 Dicentric
Chromosome and 1 Acentric
Chromosome (left) and Stable reciprocal translocation (right)

58
Q

EXCHANGE OF CENTRIC AND ACENTRIC
FRAGMENTS leads to?

A

1 Dicentric
Chromosome and 1 Acentric
Chromosome.

59
Q
A

Cytogenetics (18 decks)

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