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
2
Q
For chromosomes to be excised, there should be what?
A
Double stranded breaks
3
Q
Involves the centromere
A
Pericentric inversion
4
Q
Does not involve centromere
A
Paracentric inversion
5
Q
Abbreviations: inv
A
Inversion
6
Q
Inversion between Human Chromosome 4 and Chimpanzee Chromosome 4
A
Pericentric inversion
7
Q
Scientific term of Chimpanzees
A
Pan troglodytes
8
Q
Molecular technique in Inversions
A
FISH
9
Q
Effect of moving half of the gene to another part of the chromosome
A
Inactivation
10
Q
Shifting of parts in chromosome
A
Position Effect
11
Q
T/F: Position effect can lead to cancer.
A
True
12
Q
What does heterozygous individuals require in meiosis for synapsis?
A
super-funky loops
13
Q
De novo mutations that caused Brenden’s extreme height
A
HMGA2
14
Q
Inverted chromosome in Brenden’s extreme height
A
Chromosome 12
15
Q
Change in position of chromosome segments and gene sequences
A
Translocation
16
Q
T/F: Translocations can be seen on karyotypes especially with non reciprocal translocation.
A
True
17
Q
Change in position of chromosome segment within the same chromosome
A
Intrachromosomal
18
Q
Transfer of chromosome segment from one chromosome into a non homologous chromosome
A
Interchromosomal
19
Q
Non reciprocal translocation or one-way
A
Intrachromosomal
20
Q
Translocations are usually non homologous except for?
A
Intrachromosomal
21
Q
Abbreviations: T
A
Translocation
22
Q
Abbreviations: Second set of parentheses in translocations
A
Precise location (p and q arm, bands)
23
Q
Translocations that are more common, DNA is exchanged in both directions
A
Reciprocal Translocations
24
Q
Translocations can also result in?
A
Position effect
25
Translocations can cause linked or fused genes that cam ne passed together
Fusion genes
26
More common fusion genes
Oncogenes
27
What accompanies translocations?
Chromosome deletions
28
For one portion of the chromosome to be translocated, it must first be ____ by what?
lost, original chromosome
especially in non reciprocal
29
Fusion of 2 chromosomes that lost information regions
Robertsonian translocation
both genes lost majority of short arm then nagsama sa isang region
30
In genetic heterogeneity, this can be a cause of Down Syndrome
Robertsonian translocation
31
What human chromosome has the same banding patterns in chimpanzee, gorilla, and orangutan chromosomes?
Human Chromosome 2
32
What coding region is fused in human chromosome 2?
Hair and arms (daw)
33
Exchange of segments between two chromosomes
Reciprocal
34
Transfer of segment in one direction from one chromosome to another
Non-reciprocal
35
Short arms and/or long arms of same chromosome join at the centromere
Isochromosomes
36
Creates two copies of a large genetic region, show characteristic mirror image of banding patterns in both directions
Isochromosomes
37
This refers to when there are seen breaks at the end of linear chromosomes which fuses after loss of genetic material.
Ring Chromosome
38
Abbreviations: mar
unidentified marker
39
Abbreviations: r
Ring Chromosome
40
What does arrowheads indicate in ring chromosomes?
Breakpoints
41
Ring Chromosome 14
Epilepsy
42
Ring Chromosome 15
growth and speech delay, microcephaly
43
Ring Chromosome 18
growth delay, facial abnormalities
44
Ring Chromosome 22
Hypotonia
45
Ring Chromosome X
Turner Syndrome
46
2 causes of Turner Syndrome
1. Monosomy X
2. Ring Chromosome X
47
Special cases of joining chromosomes that have tiny short arms (acrocentrics)
Robertsonian Translocation
48
T/F: Robertsonian Translocation does not produce fusion genes that are oncogenic.
False
49
What does short arm contain?
repeated rRNA gene (meaning no obvious lost in genetic info in Robertsonian translocation)
50
Reciprocal translocation between q of chromosome 22 and 9
Chronic Myelogenous Leukemia (CML)
51
CML: What gene transitions in the bcr region?
c-abl
52
CML: In what region does the c-abl gene transition to?
bcr
53
CML: Gene for non apoptosis of baby granulocytes (specifically Neutrophils)
BCR-ABL gene
54
This results to uncontrolled replication of myeloblasts.
Chronic Myelogenous Leukemia (CML)
55
CML: The BCR-ABL fusion gene is also known as?
Philadelphia chromosome
56
Hybrid gene formed from two previously independent genes
Fusion gene
57
TEL-AML, t(12:21)
Acute Lymphocytic Leukemia (ALL)
58
AML1-ETO, t(8:21)
M2 Acute Myeloblastic Leukemia (AML)
59
Fusion gene in Acute Promyelocytic Leukemia (PML/APL)
PML-RARA
60
PML/APL: Region in Chromosome 15
PML
61
PML/APL: Region in Chromosome 17
RARA
62
TMPRSS2-ERG, deletion on Chromosome 21
Prostate Cancer
63
Specialized database of chromosomal aberrations and gene fusions in cancer
Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer
64
Mark of young myeloblasts that should not be seen in peripheral blood
larger nucleus than cytoplasm
65
Reciprocal translocation between Chromosome 8 and 14
Burkitt's Lymphoma
66
Activation of c-myc gene (protoonco gene)
Burkitt's Lymphoma
67
What is the most common virus that induces tumor in Burkitt's Lymphoma?
Epstein-Barr Virus
68
Cause of infectious mononucleosis
Epstein-Barr Virus
69
Other name for Epstein-Barr Virus
Kissing Disease
70
One chromosome 21 shifted to Chromosome 14 that causes position effect which mimics extra information in Trisomy 21
Translocation Down Syndrome
71
Organism or cell has one or exact multiple of complete set(s) of chromosomes
Euploidy
72
Organisms that have the same exact complete sets of chromosomes
True ploids (???)
73
Monosomy is acceptable only in?
Sex Chromosomes
74
T/F: Nondisjunction only happens in Meiosis I.
False
it can happen both in Meiosis I and II
75
Both members of a homologous pair are lost. 2n-2
Nullisomy
76
Loss of single chromosome, 2n-1
Monosomy
77
Involves a single extra chromosome, 2n+1
Trisomy
78
Involves an extra chromosome pair, 2n+2
Tetrasomy
79
T/F: You can have two trisomy conditions in one individual.
True (aka Double Trisomic)
80
T/F: Aneuploidy drastically affects phenotype.
True
81
Mental retardation and characteristic physical alterations but many still has normal life expectancy
Trisomy 8
82
Why is Trisomy X, Tetrasomy X, and Pentasomy X still viable?
Formation of Barr Bodies (X Inactivation)
83
XYY Syndrome
Normal
84
XXY, XXYY, XXXY
Klinefelter Syndrome
85
Trisomy 21
Down Syndrome
86
Phenotypic features of Trisomy 21
epicanthic folds are lower than tips of ear, prone to leukemia, wide skull that is flat at the back, protruding tongue
87
Trisomy 13
Patau Syndrome
88
Phenotypic features of Patau
cleft lip and palate, small eyes, polydactyly (extra fingers and toes), developmental retardation
89
T/F: More smaller trisomy, more common
True
90
Trisomy 18
Edward Syndrome
91
Average survival time of Edwards Syndrome
2 to 4 months (connective tissue is affected)
92
Phenotypic features of Edward
low-set malformed ears, short neck, elongated skull
93
Leading risk factor for Trisomy
Maternal Age
ready na daw dapat lahat ng excess in puberty, paisa isang release ng egg
94
Integrity of primary oocytes _____ as women age.
decreases
95
Phenotypic features of Turner Syndrome
webbed neck, short and wide chested, under developed breasts, rudimentary ovaries (loss of 1 X dosage), color blindness (males)
96
T/F: Males are prone to de novo mutations because of constant gamete formation.
True
97
T/F: Phenotypic features develop early.
False
they do not develop until puberty
98
Phenotypic features of Klinefelter syndrome
poor sexual development, very low fertility
99
XYY Syndrome is also known as
Jacobs Syndrome
100
Phenotypic features of Jacobs Syndrome
above average height, suffered personality disorders, below intelligence levels
101
T/F: Jacobs Syndrome is associated with violent crime behavior.
True
102
T/F: Uniparental disomy starts as trisomy, in which the absence of chromosome from father is observed.
True
103
All sets of chromosomes are from single species
Autopolyploidy
104
Polyploidy represents a hybridization between species
Allopolyploidy
105
T/F: Most allopolyploids are sterile and cannot cross-fertilize.
True
