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CTGN 2nd Shift > UNIT 5: Chromosomal Aberrations > Flashcards

UNIT 5: Chromosomal Aberrations Flashcards

1
Q

t/f: Chromosomal mutations is commonly known as chromosomal aberrations

A

true

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2
Q

these are variations from the wild-type condition in either chromosome structure or number

A

Chromosomal mutations

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3
Q

t/f: Chromosomal mutations arise spontaneously or induced by chemical or radiation mutagens

A

true

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4
Q

chromosomal abnormality: abnormal chromosome number, quantitative

A

Aneuploidy

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4
Q

2 types of chromosomal abnormalities

A

Aneuploidy
Structural

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5
Q

chromosomal abnormality: alteration, qualitative

A

Structural

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6
Q

4 variations in chromosome structure

A

Deletion
Duplication
Inversion
Translocation

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7
Q

2 types of Variation in Chromosome Number

A

Aneuploidy
Polyploidy

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8
Q

t/f: monosomics/trisomics/nullisomics/tetrasomics are under polyploidy

A

false, aneuploidy

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9
Q

3 categories of chromosome mutations

A

Chromosome rearrangements
Aneuploidy
Polyploidy

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10
Q

Category of chromosome mutation:
overall chromosome number is unaffected but large pieces of chromosomes move altering the chromosome structure

A

Chromosome Rearrangements

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11
Q

Category of chromosome mutation:
one or more individual chromosome pair has its number altered (either up or down) altering chromosome number

A

Aneuploidy

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12
Q

Category of chromosome mutation:
down syndrome, klinefelter, turners, 45, 47

A

Aneuploidy

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13
Q

Category of chromosome mutation:
humans with 3n, 4n, etc.

A

polyploidy

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13
Q

t/f: aneuploidy is better than polyploidy

A

true

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14
Q

Category of chromosome mutation:
one or more complete chromosome sets are added

A

Polyploidy

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15
Q

when a set of chromosomes do not properly separate leaving two sex cells with an extra chromosome or one less chromosome developing a chromosomal disorder

A

Nondisjunction

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16
Q

results when an error occurs during meiosis, specifically non disjunction.

A

aneuploidy

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16
Q

most often caused by error during cell division, mitosis and meiosis

A

chromosomal aberrations

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17
Q

a pair of homologous chromosomes has failed to separate or segregate at anaphase so that both chromosomes of the pair pass to the same daughter cell

A

nondisjunction

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18
Q

t/f: non disjunction occurs most commonly in mitosis

A

false, meiosis

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19
Q

t/f: nondisjuction in mitosis produces mosaic individual

A

true

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20
Q

t/f: structural chromosomal aberrations can result in an aneuploidy

A

true

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21
Q

when part or all of a chromosome is missing, turned upside down, duplicated, or attached to another chromosome

A

structural chromosomal aberrations

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22
Q

t/f: when structural chromosomal aberrations occur after meiosis, two copies or no copies is passed down ending up with monosomy or trisomy

A

true

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23
Q

when two or more different cell lines in one person and occurs after non disjunction in a mitotic cell division

A

mosaicism

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24
Q

t/f: mosaicism results in one line of cells with chromosomal aberration white other lines may stay unchanged

A

true

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25
Q

chromosomal mutation that results in the doubling of a segment of a chromosome

A

duplication

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25
Q

3 forms of duplication

A

1 Tandem Duplication
2 Reverse Duplication
3 Terminal Tandem Duplication

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26
Q

meaning of ISCN

A

International System for Human Cytogenomic Nomenclature (ISCN)

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27
Q

according to ISCN, dup means

A

duplication of parts of a chromosome

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28
Q

dup(17p12) causes ____ disease

A

charcot-marie-tooth type 1A

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28
Q

meaning of dup(17p12)

A

duplication of chromosome 17, region 1, band 2

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29
Q

when a part of chromosome is double

A

duplication

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30
Q

types of duplication

A

tandem duplication
displaced duplication
reverse duplication

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31
Q

type of duplication: one right after the other

ABCDEFGH -> ABCDEF [EF] GH

A

tandem duplication

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32
Q

type of duplication: goes to another place but still in the same chromosome

ABCDEFGH -> AB [EF] CD EFGH

A

Displaced duplication

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33
Q

type of duplication: where the duplicated region is inverted

ABCDEFGH -> ABCD[FE] EFGH

A

reverse duplication

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34
Q

t/f: individuals can only be homozygous for duplications

A

false, can be homozygous or heterozygous

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35
Q

when heterozygous for duplication, problems arise during ___ of meiosis and synapsis

A

prophase 1

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36
Q

when heterozygous for duplication, one duplicated region must ___ to allow synapsis to occur

A

loop out

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37
Q

due to ___, duplications may have significant effects on an individuals’s phenotype

A

unbalanced gene dosage

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38
Q

we are evolved to have ___ alleles for each gene

A

two alleles

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39
Q

t/f: duplications also allow new genes to be born with novel functions

A

true

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40
Q

t/f: when a gene duplicates the new duplicated gene cannot be free to mutate and evolve while the original gene continues carrying on normal functions allowing evolution to proceed with little risk to the individual

A

false, it can

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41
Q

duplication allowed fetal hemoglobin to evolve, making placental ___ reproduction possible

A

in utero reproduction

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42
Q

t/f: because of mutations, species are not evolving

A

false, they are evolving because of mutations

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42
Q

involves the loss of a segment of a chromosome

A

deletions

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43
Q

t/f: in deletions, deleted segment is only located in a specific site along the chromosome

A

false, may be located anywhere along the chromosome

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44
Q

t/f: breaks in chromosome for deletions may be caused by agents such as heat, ionizing radiation, viruses, transposable elements) or by errors in recombination

A

true

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45
Q

which molecular test is used for detecting copy number loss and copy number gains

A

CGH

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46
Q

t/f: chromosomal deletions may or may not span a centromere

A

true

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47
Q

if a deletion spans a centromere, it results to ____

A

acentric chromosome

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48
Q

3 types of deletions

A

terminal deletion
intercalary/interstitial deletion
microdeletion

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49
Q

type of deletion: a deletion that occurs towards the end of a chromosome

A

terminal deletion

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49
Q

type of deletion: a deletion that occurs from the interior of a chromosome

A

Intercalary/interstitial deletions

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50
Q

type of deletion: a relatively small amount of deletion (up to 5Mb that could include a dozen genes)

A

microdeletion

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51
Q

usually found in children with physical abnormalities.

A

microdeletion

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52
Q

a large amount of deletion in children would results in immediate ____ also called ____

A

abortion, miscarriage

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52
Q

the loss of a region or segment from a chromosome

A

chromosome deletions

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53
Q

ABCDEFGH -> ABCDGH

A

Chromosome Deletions

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54
Q

if the deletion is large enough, it can be detected in a karyotype as _____ chromosome

A

shortened chromosome

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55
Q

deletions also result in ____ during prophase 1 to allow alignment during synapsis

A

looping out

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55
Q

t/f: the effect of a deletion depends solely on what genetic information was deleted

A

true

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56
Q

t/f: deletions are lethal, and are completely symptomatic

A

false, others are completely asymptomatic

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57
Q

if the deleted region includes the centromere, the mutated chromosomes will ____ during mitosis or meiosis and are usually ___ by the cell during cell division

A

not segregate, lost

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58
Q

deletions are highly detrimental when an individual is ___ for the deletion

A

homozygous

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59
Q

t/f: homozygous for the deletion would be the complete absence of that genetic information

A

true

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60
Q

deletions in heterzygous individuals cause ____ like duplications

A

gene imbalance

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61
Q

difference between the gene imbalance cause by duplications and deletions in heterozygous

A

duplications: too much
deletions: not enough

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62
Q

t/f: recessive alleles does not express more readily when there are deletions

A

false, it is express more readily

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63
Q

according to ISCN, minus (-) is for ____ and del is for ____

A

minus (-) = chromosome deletions
del = deletions of a part of a chromosome

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64
Q

this results from a deletion of a number of pairs that is not evenly divisible by three

A

frameshift mutation

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65
Q

causes all of the codons occuring after the deletion to be read incorrectly during translation, producing altered or nonfunctional protein

A

frameshift mutation

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66
Q

a deletion that is evenly divisible by three is called ____

A

in frame deletion

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67
Q

what are the 3 major genetic disorders caused by deletions

A
  1. male infertility
  2. duchenne muscular dystrophy
  3. cystic fibrosis ( ΔF508)
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68
Q

deletion of part of the short arm of chromosome 5 results to ____

A

cri du chat syndrome

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69
Q

deletions in the SMN-encoding gene causes _______

A

spinal muscular atrophy

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70
Q

t/f: spinal muscular atrophy is the most common genetic cause of adult death

A

false, infant death

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71
Q

microdeletions are associated with conditions (3)

A

Angelman Syndrome
Prader-Willi syndrome
DiGeorge Syndrome

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72
Q

syndromes associated with microdeletions adn genomic imprinting

A

Angelman syndrome
prader-willi syndrome

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73
Q

t/f: same microdeletion can cause two different syndromes depending on which parent the deletion came from

A

true

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74
Q

human disorders caused by deletions: 5p-

A

cri du chat syndrome

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75
Q

human disorders caused by deletions: 13q-

A

retinoblastoma

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75
Q

human disorders caused by deletions: 11q-

A

wilms tumor

76
Q

human disorders caused by deletions: 15q-

A

prader-willi syndrome

77
Q

infants have catlike cry, some facial anomalies, severe mental retardation

A

cri du chat syndrome

78
Q

kidney tumors, genital and urinary tract abnormalities

A

wilms tumor

78
Q

cancer of the eye, increased risk of other cancer

A

retinoblastoma

79
Q

infants: weak slow growth; children and adults: obesity, compulsive eating

A

prader-willi syndrome

80
Q

deletion in the short arm of chromosome 5

A

cri du chat syndrome

81
Q

cri du chat syndrome occurs in every __ out of 100,000 births

A

1

81
Q

mentally retarded, with defects on facial development, gastrointestinal malformations, and abnormal throat structures

A

cri du chat syndrome

82
Q

cry of the cat

A

cri du chat

83
Q

deletions in the long arm of chromosome 15

A

prader-willi syndrome

84
Q

prader willi syndrome occurs when there is deletions between the bands of ___ and ___ of chromosome 15

A

q 11 and q 13

85
Q

affected infants of prader willi syndrome has ____ reflex

A

poor sucking reflex

86
Q

by age ____, children of prader willi syndrome become compulsive eaters

A

5-6

87
Q

poor sexual development in males, behavioral problems and mental retardation

A

prader willi syndrome

88
Q

delayed development, problems with speech and balance, intellectual disability, and sometimes, seizures

A

angelman syndrome

89
Q

t/f: people with angelman syndrome often smile and laugh frequently and have happy excitable personalities

A

true

90
Q

in angelman syndrome, developmental delays begin between about ___ and ___ months of age

A

6 - 12 months

91
Q

in angelman syndrome, seizures begin between ages ___ and __ years old

A

2-3 years old

92
Q

t/f: people with angelman syndrome have short life span

A

false, they have close to a normal life span

93
Q

t/f: angelman syndrome cannot be cured

A

true

94
Q

in angelman syndrome, the loss of a gene called ____ is associated with light colored hair and fair skin

A

OCA2

95
Q

the OCA2 gene is located on the segment of chromosome ___ that is often deleted in people with disorder

A

15

96
Q

it is a chromosomal mutation that results when a segment of a chromosome is excised and then reintegrated in an orientation 180 degrees celsius from the original orientation

A

inversion

97
Q

2 forms of inversion

A

pericentric inversion
paracentric inversion

98
Q

according to ISCN,abbreviation “inv” means

A

inv = inversions

99
Q

for inversions to happen, the DNA must break in ___ on either side of the inverted segment

A

two places

100
Q

inversion that does not include the centromere

A

paracentric inversions

101
Q

inversions that include the centromere

A

pericentric inversions

102
Q

t/f: inversions played an active role in the evolution of humans

A

true

103
Q

humans differ from chimps greatly in ____

A

inversions

104
Q

in what chromosome does chimps and humans differ greatly in inversions, and what type of inversion

A

chromosome 4, pericentric inversion

105
Q

karyotypic differences between humans and chimpanzees include ___ pericentric inversions

A

9 pericentric inversions

106
Q

the breakpoints of the inversion that distinguishes human chromosome 4 (HSA4) from its chimpanzee counterpart were identified by ____ (___) and _______

A

flourescence in situ hybridization (FISH)
comparative sequence analysis

107
Q

breakpoints at ____ and ___, do not disrupt the protein coding of a gene, although they occur in regions with an abundance of LINE and LTR-elements

A

HSA4p14 and 4q21.3

108
Q

if an inversion breaks a gene in half, moving half of that gene to another part of the chromosome will render that gene _____

A

inactive

109
Q

t/f: chromosome inversions usually do not cause detrimental effects

A

false, if the gene inverted was important, it will be

110
Q

t/f: many genes are regulated based on their position on the chromosome

A

true

111
Q

what do you call the effect where you change a gene’s position and it turn you change its regulation

A

position effect

112
Q

individuals ____ for inversion require some super-funky loops in order to allow synapsis in meiosis

A

heterozygous

113
Q

genes are regulated, two things may happen in position effect what are these two

A
  1. far from transcription factors
  2. close to transcription factors
114
Q

there is a change in the position of chromosome segments and the gene sequences they contain

A

translocation

115
Q

t/f: in translocation there is gain or loss of genetic material

A

false, there is none

116
Q

2 kinds of translocation

A

intrachromosomal
interchromosomal

117
Q

kind of translocation: change in position of a chromosome segment within the same chromosome

A

intrachromosomal

118
Q

kind of translocation: transfer of a chromosome segment from one chromosome into a nonhomologous chromosome

A

interchromosomal

119
Q

t/f: translocations are usually non homologous

A

true

120
Q

according to ISCN, what is the meaning of t(A;B)(p1;q2)

A

t=translocation
A= chromosome A
B = chromosome B
p = short arm
q = long arm
numbers = regions, bands, and subbands

121
Q

regions, bands, and sub bands are seen when staining the chromosome with a ____

A

staining dye

122
Q

when DNA moves from one chromosome to another non homologous chromosome, a ____ has occurred

A

translocation

123
Q

t/f: translocations may not occur in a single chromosome

A

false, it can also

124
Q

translocation where DNA only moved in one direction

A

Nonreciprocal translocation

125
Q

translocation where DNA is exchanged in both directions

A

reciprocal translocations

126
Q

t/f: non reciprocal translocations are more common than reciprocal

A

false, reciprocal are more common

127
Q

t/f: translocation is only between homologous chromosomes during meiosis

A

false, that is crossing over

128
Q

t/f: chimps, orangutans and gorillas have 24 chromosomes

A

false, 48

129
Q

t/f: translocations cause new linkage patterns thus changing how genes are inherited

A

true

129
Q

t/f: translocations does not result in position effects

A

false, it results also

130
Q

t/f: chromosome duplications often accompany translocations

A

false, chromosome deletions

130
Q

2 types of interchromosomal translocation

A

reciprocal
non reciprocal

131
Q

type of interchromosomal translocation: exchange of segments between two chromosomes

A

reciprocal

132
Q

type of interchromosomal translocation: transfer of segment in one direction from one chromosome to another

A

non-reciprocal

133
Q

when the short or long arms of same chromosome join at centromere and creates two copies of a large genetic region

A

isochromes

134
Q

shows characteristic mirror image appearance of banding patterns extending in both directions from centromere

A

isochromes

135
Q

joining of centromere occuring between chromosomes that have tiny short arms (acrocentrics)

A

robertsonian translocation

136
Q

t/f: in robersonian translocation, there is no obvious lost in genetic information because the short arms contain repeated rRNA genes

A

true

137
Q

involves reciprocal translocation between the long arm of chromosome 22 and chromosome 9

A

chronic myelogenous leukemia

138
Q

transition of c-abl within the bcr

A

chronic myelogenous leukemia

139
Q

results to uncontrolled replication of myeloblasts

A

chronic myelogenous leukemia

140
Q

PML RARA is what type of gene

A

translocation gene

141
Q

common disease in africa, virus induced tumor; malignant B cells secrete antibodies

A

burkitt’s lymphoma

142
Q

involves reciprocal translocation between chromosome 8 and 14 and activation of c-myc

A

burkitt’s lymphoma

143
Q

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

A

euploidy

144
Q

irregular distribution of sister chromatids during mitosis or of homologus chromosomes during meiosis

A

nondisjunction

145
Q

type of aneuploidy: both members of a homologous pair are lost (46 to 44 or 2n -2)

A

nullisomy

145
Q

4 types of aneuploidy

A

nullisomy
monosomy
trisomy
tetrasomy

146
Q

type of aneuploidy: one chromosome is lost (46 to 45 or 2n - 1)

A

monosomy

147
Q

type of aneuploidy: one chromosome is gained (2n + 1)

A

trisomy

148
Q

type of aneuploidy: involves an extra chromosome pair (2n + 2)

A

tetrasomy

149
Q

t/f: it is not possible for an individual to have multiple instances of aneuploidy and still have normal chromosome number

A

true

149
Q

2n + 1 + 1

A

double trisomic

150
Q

t/f: trisomy of the X chromosome cannot be tolerated in females

A

false, it is tolerated well

151
Q

t/f: Y aneuploids are viable

A

true

152
Q

___% of all successful concenptions spontaneously abort (miscarry)

A

30%

153
Q

__% of these miscarried fetuses ahve chromosome mutations

A

50%

154
Q

in humans, only __% of aneuploids survive to birth

A

3%

155
Q

in mice, ___% of all conceptions are aneuploid

A

2%

156
Q

t/f: most human aneuploids have X or Y chromosome aneuploidy

A

true

157
Q

occurs ~1 in 25,000 to 50,000 live briths, mental retardation adn characteristic physical alternations, many have normal life expectancy

A

trisomy 8

158
Q

t/f: trisomy 21 is tolerated better because it a small chromosome with fewer genes

A

true

159
Q

syndrome: trisomic 21

A

down syndrome

160
Q

syndrome: trisomic 13

A

patau

161
Q

syndrome: trisomic 18

A

edwards

162
Q

syndrome: XO, monosomic

A

turner

163
Q

syndrome: trisomic XYY

A

normal

164
Q

syndrome: XXY, XXYY,XXXY

A

klinefelter

165
Q

wide skull flat back, epicanthic fold, iris spots, furrowed and protrudign tongue, congenital heart defects

A

trisomy 21

166
Q

cleft lip and palate, small eyes, polydactyl (extra fingers and toes), mental and developmental retardation, severe malformation of the brain and nervous system

A

trisomy 13

167
Q

most affected infants of trisomy 13 die before the age of ____

A

three months

168
Q

life expectancy of edward syndrom

A

2-4 months

169
Q

life expectancy of trisomy 13

A

50% die within first month, 95% three years

170
Q

life expectancy of trisomy 8

A

may be normal life expectancy

171
Q

t/f: males are mostly affected by edwards syndrome

A

false, females

172
Q

multple congenital malformations, clenched fists, elongated skill, low set ears, retardations

A

edwards

173
Q

leading risk factor for autosomal trisomy

A

maternal age

174
Q

t/f: the integrity of primary oocytes increases as the women age

A

false, decreases

175
Q

t/f: as a woman age, maternal selection becomes less effective

A

true

176
Q

short and wide chested, webbed neck, underdeveloped breasts and rudimentary ovaries, absence of barr body, color blindness, narrowing of aorta

A

turner syndrome

177
Q

t/f: klinefeltersyndrome features do not develop until puberty

A

true

178
Q

males with poor sexual development, very low fertility, breast development

A

klinefelter syndrome

179
Q

above average height, suffered personality disorders, below normal intelligence, violent criminal behavior

A

47, XYY

180
Q

t/f: Y chromosome is essential for suvival

A

false, X chromosome

181
Q

getting two chromsomes from one parent

A

uniparental disomy

182
Q

cell is conceived trisomatic but loses a chromosome early on in development

A

uniparental disomy

183
Q

chromosome lost came from the nondisjunctive parent, teh other two came from one parent

A

uniparental disomy

184
Q

polyploidy is common in ____ and is the major driving force behind its speciation

A

plants

185
Q

two types of polyploidy

A

autopolyploidy
allopolyploidy

186
Q

type of polyploidy: all sets of chromosomes are from a single species

A

autopolyploidy

187
Q

type of polyploidy: when polyploidy represents a hybridization between specieies with chromosome sets coming from different cells

A

allopolyploidy

188
Q

t/f: allopolyploids are sterile and cannto cross fertilize but plants can

A

true

189
Q

most common form of polyploidy

A

triploidy

190
Q

(69, XXY), (69,XXX), (69,XYY)

A

triploidy

190
Q

life expectancy of triploid infants

A

within a month

191
Q

DNA duplication but no cell division is called

A

endomitosis

191
Q

endomitosis results to ____

A

tetraploidy

192
Q

___ of DNA and histones causes nucleosomes to pack tightly together

A

Methylation

193
Q

___ results in loose packing of nucleosomes

A

Histone acetylation

194
Q

Gene mutation/Chromosomal mutations:

alteration of the nucleotide of sequence of a gene

A

Gene mutation

CTGN 2nd Shift (5 decks)

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