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2S CYTOGEN > U5 CHROMOSOMAL ABERRATIONS: INVERSION TO TRANSLOCATION > Flashcards

U5 CHROMOSOMAL ABERRATIONS: INVERSION TO TRANSLOCATION Flashcards

1
Q

Chromosomal mutations that results when a segment of a chromosome is excised and then reintegrated in an orientation 180 from the original orientation.

A

Inversion

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2
Q

For chromosomes to be excised, there should be what?

A

Double stranded breaks

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3
Q

Involves the centromere

A

Pericentric inversion

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4
Q

Does not involve centromere

A

Paracentric inversion

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5
Q

Abbreviations: inv

A

Inversion

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6
Q

Inversion between Human Chromosome 4 and Chimpanzee Chromosome 4

A

Pericentric inversion

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7
Q

Scientific term of Chimpanzees

A

Pan troglodytes

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8
Q

Molecular technique in Inversions

A

FISH

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9
Q

Effect of moving half of the gene to another part of the chromosome

A

Inactivation

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10
Q

Shifting of parts in chromosome

A

Position Effect

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11
Q

T/F: Position effect can lead to cancer.

A

True

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12
Q

What does heterozygous individuals require in meiosis for synapsis?

A

super-funky loops

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13
Q

De novo mutations that caused Brenden’s extreme height

A

HMGA2

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14
Q

Inverted chromosome in Brenden’s extreme height

A

Chromosome 12

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15
Q

Change in position of chromosome segments and gene sequences

A

Translocation

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16
Q

T/F: Translocations can be seen on karyotypes especially with non reciprocal translocation.

A

True

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17
Q

Change in position of chromosome segment within the same chromosome

A

Intrachromosomal

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18
Q

Transfer of chromosome segment from one chromosome into a non homologous chromosome

A

Interchromosomal

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19
Q

Non reciprocal translocation or one-way

A

Intrachromosomal

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20
Q

Translocations are usually non homologous except for?

A

Intrachromosomal

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21
Q

Abbreviations: T

A

Translocation

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22
Q

Abbreviations: Second set of parentheses in translocations

A

Precise location (p and q arm, bands)

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23
Q

Translocations that are more common, DNA is exchanged in both directions

A

Reciprocal Translocations

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24
Q

Translocations can also result in?

A

Position effect

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25
Q

Translocations can cause linked or fused genes that cam ne passed together

A

Fusion genes

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26
Q

More common fusion genes

A

Oncogenes

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27
Q

What accompanies translocations?

A

Chromosome deletions

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28
Q

For one portion of the chromosome to be translocated, it must first be ____ by what?

A

lost, original chromosome

especially in non reciprocal

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29
Q

Fusion of 2 chromosomes that lost information regions

A

Robertsonian translocation

both genes lost majority of short arm then nagsama sa isang region

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30
Q

In genetic heterogeneity, this can be a cause of Down Syndrome

A

Robertsonian translocation

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31
Q

What human chromosome has the same banding patterns in chimpanzee, gorilla, and orangutan chromosomes?

A

Human Chromosome 2

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32
Q

What coding region is fused in human chromosome 2?

A

Hair and arms (daw)

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33
Q

Exchange of segments between two chromosomes

A

Reciprocal

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34
Q

Transfer of segment in one direction from one chromosome to another

A

Non-reciprocal

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35
Q

Short arms and/or long arms of same chromosome join at the centromere

A

Isochromosomes

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36
Q

Creates two copies of a large genetic region, show characteristic mirror image of banding patterns in both directions

A

Isochromosomes

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37
Q

This refers to when there are seen breaks at the end of linear chromosomes which fuses after loss of genetic material.

A

Ring Chromosome

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38
Q

Abbreviations: mar

A

unidentified marker

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39
Q

Abbreviations: r

A

Ring Chromosome

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40
Q

What does arrowheads indicate in ring chromosomes?

A

Breakpoints

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41
Q

Ring Chromosome 14

A

Epilepsy

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42
Q

Ring Chromosome 15

A

growth and speech delay, microcephaly

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43
Q

Ring Chromosome 18

A

growth delay, facial abnormalities

44
Q

Ring Chromosome 22

A

Hypotonia

45
Q

Ring Chromosome X

A

Turner Syndrome

46
Q

2 causes of Turner Syndrome

A
  1. Monosomy X
  2. Ring Chromosome X
47
Q

Special cases of joining chromosomes that have tiny short arms (acrocentrics)

A

Robertsonian Translocation

48
Q

T/F: Robertsonian Translocation does not produce fusion genes that are oncogenic.

A

False

49
Q

What does short arm contain?

A

repeated rRNA gene (meaning no obvious lost in genetic info in Robertsonian translocation)

50
Q

Reciprocal translocation between q of chromosome 22 and 9

A

Chronic Myelogenous Leukemia (CML)

51
Q

CML: What gene transitions in the bcr region?

A

c-abl

52
Q

CML: In what region does the c-abl gene transition to?

A

bcr

53
Q

CML: Gene for non apoptosis of baby granulocytes (specifically Neutrophils)

A

BCR-ABL gene

54
Q

This results to uncontrolled replication of myeloblasts.

A

Chronic Myelogenous Leukemia (CML)

55
Q

CML: The BCR-ABL fusion gene is also known as?

A

Philadelphia chromosome

56
Q

Hybrid gene formed from two previously independent genes

A

Fusion gene

57
Q

TEL-AML, t(12:21)

A

Acute Lymphocytic Leukemia (ALL)

58
Q

AML1-ETO, t(8:21)

A

M2 Acute Myeloblastic Leukemia (AML)

59
Q

Fusion gene in Acute Promyelocytic Leukemia (PML/APL)

A

PML-RARA

60
Q

PML/APL: Region in Chromosome 15

A

PML

61
Q

PML/APL: Region in Chromosome 17

A

RARA

62
Q

TMPRSS2-ERG, deletion on Chromosome 21

A

Prostate Cancer

63
Q

Specialized database of chromosomal aberrations and gene fusions in cancer

A

Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer

64
Q

Mark of young myeloblasts that should not be seen in peripheral blood

A

larger nucleus than cytoplasm

65
Q

Reciprocal translocation between Chromosome 8 and 14

A

Burkitt’s Lymphoma

66
Q

Activation of c-myc gene (protoonco gene)

A

Burkitt’s Lymphoma

67
Q

What is the most common virus that induces tumor in Burkitt’s Lymphoma?

A

Epstein-Barr Virus

68
Q

Cause of infectious mononucleosis

A

Epstein-Barr Virus

69
Q

Other name for Epstein-Barr Virus

A

Kissing Disease

70
Q

One chromosome 21 shifted to Chromosome 14 that causes position effect which mimics extra information in Trisomy 21

A

Translocation Down Syndrome

71
Q

Organism or cell has one or exact multiple of complete set(s) of chromosomes

A

Euploidy

72
Q

Organisms that have the same exact complete sets of chromosomes

A

True ploids (???)

73
Q

Monosomy is acceptable only in?

A

Sex Chromosomes

74
Q

T/F: Nondisjunction only happens in Meiosis I.

A

False

it can happen both in Meiosis I and II

75
Q

Both members of a homologous pair are lost. 2n-2

A

Nullisomy

76
Q

Loss of single chromosome, 2n-1

A

Monosomy

77
Q

Involves a single extra chromosome, 2n+1

A

Trisomy

78
Q

Involves an extra chromosome pair, 2n+2

A

Tetrasomy

79
Q

T/F: You can have two trisomy conditions in one individual.

A

True (aka Double Trisomic)

80
Q

T/F: Aneuploidy drastically affects phenotype.

A

True

81
Q

Mental retardation and characteristic physical alterations but many still has normal life expectancy

A

Trisomy 8

82
Q

Why is Trisomy X, Tetrasomy X, and Pentasomy X still viable?

A

Formation of Barr Bodies (X Inactivation)

83
Q

XYY Syndrome

A

Normal

84
Q

XXY, XXYY, XXXY

A

Klinefelter Syndrome

85
Q

Trisomy 21

A

Down Syndrome

86
Q

Phenotypic features of Trisomy 21

A

epicanthic folds are lower than tips of ear, prone to leukemia, wide skull that is flat at the back, protruding tongue

87
Q

Trisomy 13

A

Patau Syndrome

88
Q

Phenotypic features of Patau

A

cleft lip and palate, small eyes, polydactyly (extra fingers and toes), developmental retardation

89
Q

T/F: More smaller trisomy, more common

A

True

90
Q

Trisomy 18

A

Edward Syndrome

91
Q

Average survival time of Edwards Syndrome

A

2 to 4 months (connective tissue is affected)

92
Q

Phenotypic features of Edward

A

low-set malformed ears, short neck, elongated skull

93
Q

Leading risk factor for Trisomy

A

Maternal Age

ready na daw dapat lahat ng excess in puberty, paisa isang release ng egg

94
Q

Integrity of primary oocytes _____ as women age.

A

decreases

95
Q

Phenotypic features of Turner Syndrome

A

webbed neck, short and wide chested, under developed breasts, rudimentary ovaries (loss of 1 X dosage), color blindness (males)

96
Q

T/F: Males are prone to de novo mutations because of constant gamete formation.

A

True

97
Q

T/F: Phenotypic features develop early.

A

False

they do not develop until puberty

98
Q

Phenotypic features of Klinefelter syndrome

A

poor sexual development, very low fertility

99
Q

XYY Syndrome is also known as

A

Jacobs Syndrome

100
Q

Phenotypic features of Jacobs Syndrome

A

above average height, suffered personality disorders, below intelligence levels

101
Q

T/F: Jacobs Syndrome is associated with violent crime behavior.

A

True

102
Q

T/F: Uniparental disomy starts as trisomy, in which the absence of chromosome from father is observed.

A

True

103
Q

All sets of chromosomes are from single species

A

Autopolyploidy

104
Q

Polyploidy represents a hybridization between species

A

Allopolyploidy

105
Q

T/F: Most allopolyploids are sterile and cannot cross-fertilize.

A

True

2S CYTOGEN (16 decks)

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