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2nd Year 2nd Term > MT6315 CHROMOSOMAL ALTERATIONS > Flashcards

MT6315 CHROMOSOMAL ALTERATIONS Flashcards

1
Q

Chromosomal mutations are commonly known as?

A

chromosomal aberrations

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2
Q

Chromosomal mutations are variations from?

A

Wild type phenotype in chromosome structure or number

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3
Q

How do chromosomal mutations arise?

A

Spontaneously or induced by chemical or radiation mutagens.

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4
Q

Abnormal chromosomal number refers to?

A

Aneuploidy

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5
Q

Chromosomal alteration refers to?

A

Structural abnormality

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6
Q

Chromosomal abnormalities are influenced by?

A

Genomic imprinting
Mitochondrial inheritance
Expansion of trinucleotide repeats

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7
Q

Types of Chromosomal mutations based on Variation in Chromosome Structure

A
  • Deletion
  • Duplication
  • Inversion
  • Translocation
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8
Q

Types of Chromosomal mutations based on Variation in Chromosome Number

A
  • Aneuploidy (Monosomics/Trisomics/Nullisomics/Tetrasomics)
  • Polyploidy
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9
Q

3 broad categories of chromosome mutations?

A

Chromosome rearrangements
Aneuploidy
Polyploidy

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10
Q

one or more individual chromosome pair has its number altered

A

Aneuploidy

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11
Q

overall chromosome number is unaffected, but large pieces are moved

A

Chromosome rearrangement

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12
Q

one or more complete chromosome sets are added

A

Polyploidy

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13
Q

Chromosomal aberrations are most often caused by?

A

errors during cell division.

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14
Q

Aneuploidy may result in errors occurring in?

A

meiosis.

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15
Q

Most common aneuploidy error is?

A

nondisjunction, when a set of chromosomes do not properly separate, which leaves one or two sex cells with an extra chromosome or with one less chromosome.

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16
Q

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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17
Q

Nondisjunction is common in?

A

commonly in meiosis, but it may occur in mitosis to produce a mosaic individual.

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18
Q

When is nondisjunction common in mitosis?

A

to produce a mosaic individual.

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19
Q

Structural chromosomal aberrations can result in?

A

Aneuploidy

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20
Q

Kinds of Structural chromosomal aberrations?

A

Deletion
Inversion
Duplication
Translocation

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21
Q

Chromosomal disorders are sometimes caused by?

A

Mosaicism

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22
Q

What is mosaicism?

A

Two or more different cell lines in one person.

Can occur after nondisjunction in meiosis during early embryonic development.

This results in one line of cells with a chromosomal aberration while other lines may stay unchanged.

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23
Q

Mutation that results in the doubling of a segment of a chromosome.

A

Duplication

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24
Q

Forms of duplication?

A

Tandem duplication
Reverse duplication
Terminal tandem duplication
Misplaced Duplication

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25
Q

The International System for Human Cytogenomic Nomenclature (ISCN) for duplication?

A

dup

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26
Q

dup(17p12)

A

Charcot–Marie–Tooth disease type 1A.

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27
Q

What type of duplication: one right after the other

A

Tandem

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28
Q

What type of duplication: duplicated region is inverted

A

Reverse duplication

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29
Q

T or F: Individuals can ONLY be homozygous for duplication

A

F, both hetero and homo

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30
Q

In heterozygous individuals for duplication, when do problems arise?

A

Prophase I of meiosis and synapsis

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31
Q

What does the duplicated chromosome need to do in order to let the synapsis occur?

A

Loop out

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32
Q

Duplications have an effect on an individual’s ____, due to ______.

A

Phenotype
Unbalanced Gene Dosage

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33
Q

Good side of duplication?

A

Contributed to evolution through new genes being “born” with novel functions

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34
Q

What is an example of evolution through duplication?

A

Fetal hemoglobin which allowed for in utero reproduction

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35
Q

loss of a segment of a chromosome.

A

Deletion

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36
Q

Where does deletion start?

A

breaks of chromosomes

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37
Q

What causes breaks of chromosomes?

A

agents (such as heat, ionizing radiation, viruses, transposable elements) or by errors in recombination.

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38
Q

What is pseudo dominance?

A

Dominant ‘A’ allele is deleted, causing the expression of the recessive ‘a’ allele

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39
Q

Types of deletions?

A

Terminal deletion
Intercalary/interstitial deletion
Microdeletion

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40
Q

a deletion that occurs from the interior of a chromosome.

A

Intercalary/interstitial deletion

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41
Q

a deletion that occurs towards the end of a chromosome.

A

Terminal deletion

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42
Q

a relatively small amount of deletion usually found in children with physical abnormalities

A

Microdeletion

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43
Q

Sizes of micro deletions?

A

up to 5Mb mutations that could include a dozen genes

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44
Q

Where is micro deletion usually found?

A

in children with physical abnormalities. A large amount of deletion would result in immediate abortion (miscarriage)

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45
Q

If a deletion is large enough it can be detected where?

A

Karyotype

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46
Q

T or F: Deletions also have looping out in Prophase I to allow for the alignment of synapse

A

T

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47
Q

The effect of deletion depends on?

A

The genetic information deleted (some are lethal, some are asymptomatic)

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48
Q

If the deleted chromosome includes the centromere, the chromosome (will/will not) segregate during mitosis or meiosis.

A

will NOT, will be lost during cell division

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49
Q

When are deletions detrimental to an individual?

A

when HOMOZYGOUS due to the complete absence of that genetic information

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50
Q

What happens in a heterozygous individuals for deletion?

A

Gene imbalance

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51
Q

T or F: Recessive alleles appear more readily in deletions

A

T because there are no other alleles to mask

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52
Q

Human syndromes related to deletion are (common/rare).

A

Rare

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53
Q

The International System for Human Cytogenomic Nomenclature (ISCN) for deletion?

A

Abbreviations include a minus sign (-) for chromosome deletions, and del for deletions of parts of a chromosome.

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54
Q

Deletion of a number of pairs that is not evenly divisible by three will lead to?

A

frameshift mutation

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55
Q

Frameshift mutation causes?

A

Causing all of the codons occurring after the deletion to be read incorrectly during translation, producing a severely altered and potentially nonfunctional protein.

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56
Q

deletion that is evenly divisible by three is called?

A

in-frame deletion.

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57
Q

Deletions are responsible for an array of genetic disorders, including?

A

some cases of male infertility, 2/3 of cases of Duchenne muscular dystrophy, and 2/3 of cases of cystic fibrosis (those caused by ΔF508).

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58
Q

Deletions in the SMN-encoding gene cause?

A

spinal muscular atrophy, the most common genetic cause of infant death.

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59
Q

Microdeletions are associated with many different conditions, including?

A

Angelman Syndrome, Prader-Willi Syndrome, and DiGeorge Syndrome

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60
Q

Some syndromes are associated with both microdeletions and genomic imprinting such as?

A

Angelman syndrome and Prader-Willi syndrome

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61
Q

What is genomic imprinting?

A

Same microdeletion can cause two different syndromes depending on which parent the deletion came from.

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62
Q

5p-

A

Cri du chat syndrome

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63
Q

11q-

A

Wilms tumor

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64
Q

13q-

A

Retinoblastoma

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65
Q

15q-

A

Prader-Willi syndrome

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66
Q

Cancer of the eye, increased risk of other cancers

A

Retinoblastoma

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67
Q

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

A

Prader-Willi syndrome

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68
Q

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

A

Cri du chat syndrome

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69
Q

This condition occurs in every 1 out of 100,000 births.

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

A

Cri du chat syndrome

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70
Q

del15q11 or q13

A

Prader-Willi Syndrome

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71
Q

Often smile and laugh frequently, and have happy, excitable personalities.

Developmental delays, which begin between about 6 and 12 months of age, are usually the first signs.

Seizures may begin between the ages of 2 and 3 years old.

A

Angelman Syndrome

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72
Q

The ____ gene is located on the segment of chromosome 15 that is often deleted in people with Angelman syndrome.

A

OCA2

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73
Q

Results when a segment of a chromosome is excised and then reintegrated in an orientation 180 degrees from the original orientation.

A

Inversion

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74
Q

Forms of Inversion?

A

Pericentric Inversion
Paracenric Inversion

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75
Q

The International System for Human Cytogenomic Nomenclature (ISCN) for inversion?

A

inv

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76
Q

Type of inversion: does not include the centromere

A

Paracentric

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77
Q

Type of inversion: includes the centromere

A

Pericentric

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78
Q

T or F: Inversions played a role in human evolution

A

T

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79
Q

Karyotypic differences between humans and chimpanzees include how many pericentric inversions?

A

9

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80
Q

What is a prerequisite for any assessment of the genetic consequences of these inversions?

A

Detailed analysis of the respective chromosomal breakpoints

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81
Q

The breakpoints of the inversion that distinguishes human chromosome 4 (HSA4) from its chimpanzee counterpart were identified by?

A

FISH
Comparative sequence analysis

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82
Q

These breakpoints, at _____ and ____, do not disrupt the protein coding region of a gene, although they occur in regions with an abundance of ____ and ____ elements

A

HSA4p14 and 4q21.3
LINE and LTR-elements.

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83
Q

When is a gene rendered inactive in inversion?

A

If an inversion breaks a gene in half and that half moves to another part of the chromosome

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84
Q

How are genes regulated on the chromosome?

A

by their position

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85
Q

Changing a gene’s position will lead to?

A

Changes in regulation
Position effect

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86
Q

In inversion, do genes require looping?

A

Yes

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87
Q

Intense looping in inversion causes?

A

Chromosomal damage and loss

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88
Q

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

A

Translocation

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89
Q

Is there a presence of gains or losses in genetic material for translocation?

A

No

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90
Q

Kinds of Translocation?

A

Intrachromosomal
Interchromosomal

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91
Q

change in position of a chromosome segment within the same chromosome.*

A

Intrachromosomal

92
Q

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

A

Interchromosomal

93
Q

T or F: Translocation is usually homologous

A

F; non homologous

94
Q

broken piece attached to one end of chromosomes

A

Simple Translocation

95
Q

broken segment inserted interstitially in a chromosome

A

Shift Translocation Translocation

96
Q

Homozygotic & Heterozygotic translocation

A

Reciprocal

97
Q

ISCN for translocation?

A

t(A;B)(p1;q2)

98
Q

T or F: Crossing over and translocation are the same

A

F; crossing over is homologous translocation is non homologous

99
Q

Effects of translocation?

A

Emergence of new genetic linkages
Result in position effects
Accompany deletions (Robertsonian deletions - common cause of Down syndrome)

100
Q

Types of Interchromosomal translocation

A

Reciprocal
Non-Reciprocal (can also be intrachromosomal)

101
Q

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

A

Isochromosomes / Isochromes

102
Q

What kind of image is produced by isochromes?

A

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

103
Q

special cases of joining at centromeres

A

Robertsonian Translocation

104
Q

Robertsonian Translocation is common in what kind of chromosomes?

A

occur between chromosomes that have tiny short arms (acrocentrics)

105
Q

Why is there no obvious loss in genetic information in Robertsonian translocation?

A

because the short arms contain repeated rRNA genes

106
Q

What are the Human Tumors associated with Translocation?

A

CHRONIC MYELOGENOUS LEUKEMIA
BURKITT’S LYMPHOMA

107
Q

In CML, leukemic cells have what type of chromosome?

A

Philadelphia chromosome

108
Q

In CML, there is a transition of?

A

c-abl within the bcr

109
Q

CML results in the?

A

It results to uncontrolled replication of myeloblasts.

110
Q

Virus-induced tumor; malignant B cells secrete antibodies

A

Burkett’s Lymphoma

111
Q

Burkett’s Lymphoma is a translocation between?

A

Chromosome 14 and 8

112
Q

Burkett’s Lymphoma activates?

A

c-myc

113
Q

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

A

EUPLOIDY

114
Q

Chromosome mutations may occur which results in variations of?

A

the number of individual chromosomes or in variation in complete sets of chromosomes.

115
Q

One or several chromosomes are lost from or added to the normal set of chromosomes.

A

ANEUPLOIDY

116
Q

ANEUPLOIDY is a result of?

A

Nondisjunction

117
Q

Loss or gain of single chromosome

A

Aneuploidy

118
Q

When can aneuploidies happen?

A

when a chromosome is lost during mitosis and meiosis due to loss of a centromere

when translocation causes the shrinking of the chromosome reddening it informationless

nondisjunction when cohesion fails to degrade during mitosis or meiosis

119
Q

4 types of aneuploidy?

A
  1. Nullisomy
  2. Monosomy
  3. Trisomy
  4. Tetrasomy
120
Q

loss of one homologous pair; 2N-2

A

Nullisomy

121
Q

involves a single extra chromosome; 2N+1

A

Trisomy

122
Q

involves a loss of a single chromosome; 2N-1

A

Monosomy

123
Q

involves an extra chromosome pair; 2N+2

A

Tetrasomy

124
Q

T or F: AN individual can only harbor one aneuploidy

A

F; you can have multiple but still have the same number of chromosomes but not normal/healthy

125
Q

T or F: There is a possibility of double trisomic individual

A

T

126
Q

Why are aneuploidies lethal in most species?

A

Because of changes in dosage of multiple genes

127
Q

Why is the X chromosome an exception of overdosage?

A

trisomy of X is well tolerated in females because of random inactivation (Barr bodies)

128
Q

Miscarried babies are due to?

A

Chromosomal mutations (aneuploidies)

129
Q

Why are most autosomal aneuploids spontaneously aborted?

A

Smaller chromosomes have fewer genes and less dosage problems, which tolerate aneuploidies better (causing trisomy 21)

130
Q

three copies of chromosome 21

A

Down Syndrome: Trisomy-21

131
Q

Down Syndrome used to be called?

A

mongolism

132
Q

Three copies of chromosome 13

A

Patau Syndrome

133
Q

cleft lip and palate; small eyes; polydactyly (extra fingers and toes); mental and developmental retardation; severe malformations of the brain and nervous system.

A

Patau Syndrome

134
Q

have multiple congenital malformations affecting almost every organ system; clenched fists; elongated skull; low-set malformed ears; mental and developmental retardation.

A

Edward Syndrome

135
Q

Trisomy 18

A

Edward Syndrome

136
Q

What is the leading risk factor for Autosomal Trisomy?

A

Maternal age

137
Q

Why is maternal age a risk factor for autosomal trisomy?

A
  1. The integrity of primary oocytes decreases as the woman age.
  2. Maternal selection becomes less effective.
138
Q

T or F: Meiotic problems arise as female age rises.

A

T

139
Q

Monosomy for the X chromosome

A

Turner Syndrome: (45, X)

140
Q

T or F: Complete absence of X chromosome in the absence or presence of Y chromosome is always lethal.

A

T

141
Q

Other forms are (48, XXYY), (48, XXXY) and (49, XXXXY)

A

Klinefelter Syndrome: (47,XXY)

142
Q

Phenotypic features do not develop until puberty.

A

Klinefelter Syndrome: (47,XXY)

143
Q

Phenotypic features – short and wide-chested; extra folds of skin on the neck, underdeveloped breasts and rudimentary ovaries, absence of Barr body, color blindness, narrowing of aorta

A

Turner Syndrome: (45, X)

144
Q

Phenotypic features – above average height, suffered personality disorders, below normal intelligence

A

XYY Syndrome: (47, XYY)

145
Q

Phenotypic features – poor sexual development; very
low fertility; with breast development

A

Klinefelter Syndrome: (47,XXY)

146
Q

Early studies associate violent criminal behavior with the presence of extra Y chromosome.

A

XYY Syndrome: (47, XYY)

147
Q

X or Y chromosome is essential for survival?

A

X

148
Q

“getting 2 chromosomes from one parent”

A

UNIPARENTAL DISOMY

149
Q

Abnormalities in the number of haploid chromosomal sets can arise in several ways which are?

A
  • Errors in meiosis during gamete formation
  • Events in fertilization
  • Errors in mitosis following fertilization
150
Q

variations from the normal state in the number of complete sets of chromosomes.

A

Polyploidy

151
Q

when an entire set of chromosomes fail to separate during mitosis or meiosis

A

Polyploidy

152
Q

Polyploidy is common in?

A

Plants for plant speciation

153
Q

when all sets of chromosomes are from a single specie

A

Autopolyploidy

154
Q

when polyploidy represents a hybridization between species

A

Allopolyploidy

155
Q

Most allopolyploids are _____ in sense that they cannot ____ but since plants are often ____ they perpetuate themselves

A

sterile
cross-fertilize
self-fertilize

156
Q

most common form of polyploidy

A

Triploidy

157
Q

Forms of triploidy

A

(69,XXY), (69,XXX) and (69,XYY).

158
Q

Regions with high transcriptional activity are loosely packed

A

Acetylation

159
Q

Regions with low or no transcriptional activity are densely packed

A

Methylation

160
Q

Chromosomal mutations: single or multiple genes are affected?

A

Single

161
Q

T or F: Chromosomal mutation is due to errors in crossing over

A

F; errors in DNA replication and mutagens

162
Q

Unbalanced set of chromosomes
Phenomenon when the relative gene dosage is upset

A

Aneuploidy

163
Q

Chromosome with identical arms

A

Isochromosome

164
Q

How do ring chromosomes form?

A

Due to deletions in the telomeres which cause ends to adhere

165
Q

T or F: Duplications are deleterious

A

F; they are NOT deleterious

166
Q

If inversions do not change the genetic content, what DO they change?

A

linear sequence of the genetic information

167
Q

In an inversion heterozygote, chromosomes twist into?

A

a loop where the order is inverted

168
Q

Paracentric crossing over results in?

A

one Acentric and one dicentric chromosomes

169
Q

Pericentric crossing over results in?

A

duplications and deletions of genetic information

170
Q

Why do Acentric chromatids fail to move to either pole?

A

Because they don’t have a centromere

171
Q

In translocation in homozygotes, is there any cytological peculiarities?

A

No

172
Q

In translocation of heterozygotes, where do breaks occur?

A

In one of the chromosomes of a homologous pair

173
Q

Basic chromosome set from which all the other genomes are formed from is called?

A

Monoploid set

174
Q

Set of chromosomes present in a gamete, irrespective of the chromosome number in the species

A

Haploid set

175
Q

Polyploids can arise from?

A

genome duplications occurring before or after fertilization

176
Q

Formation of unreduced gametes that have double the normal complement of chromosomes or the abortive mitotic division

A

Endoreduplication

177
Q

What indicates the chromosome number, sex chromosome structure, and the nature of the specific chromosomal abnormality?

A

Chromosomal shorthand

178
Q

Male with a translocation between the short arm of chromosome 7 at band 21.1 and the long arm of chromosome 9 at band 34.1

A

46, XY t(7;9)(p21.1;q34.1)

179
Q

Triplo-X Syndrome

A

47, XXX

180
Q

Detects trisomies, monosomies and micro deletions

A

FISH

181
Q

Detects copy number variations of genetic material

A

CGH

182
Q

Illnesses that are exceptions to the lethality of spontaneous mutations?

A

Trisomy 21, 18, 13 and extra X or Y chromosomes (little/mild effect)

183
Q

Examples of Aneuploidy illnesses?

A

Klinefelter, Turner, Down syndrome

184
Q

Nondisjunction means that a pair of chromosomes has failed to separate or segregate at what stage of meiosis (or mitosis)?

A

Anaphase

185
Q

A deleted segment of a chromosome may be located where?

A

Anywhere along the chromosome

186
Q

A large amount of deletion would result in?

A

immediate abortion (miscarriage)

187
Q

Prader-Willi syndrome is associated with maternal or paternal deletion?

A

Paternal

188
Q

Is Angelman Syndrome associated with maternal or paternal deletion?

A

Maternal

189
Q

For inversions to take place, the DNA must?

A

Have double stranded breaks (break in two places)

190
Q

Chromosome inversions between humans and chimpanzees concerned what chromosomes? And what kind of inversion?

A

Human chromosome 4 and chimpanzee chromosome 4
Pericentric

191
Q

More common type of translocation?

A

Interchromosomal

192
Q

Type of translocation where DNA only moved in one direction?

A

Nonreciprocal

193
Q

Type of translocation where DNA exchanged in both directions?

A

Reciprocal

194
Q

What causes Burkitt’s lymphoma?

A

Epstein Barr Virus (EBV)

195
Q

Most human aneuploid are found in which chromosomes?

A

X or Y

196
Q

Having more than two sets of chromosomes

A

Polyploidy

197
Q

Lifespan of triploidies?

A

Limited, most die within a month

198
Q

Origin of tetraploidy?

A

DNA duplication but no cell division (endomitosis)

199
Q

What causes nucleosomes to pack tightly together?

A

Methylation of DNA and histones

200
Q

Does methylation of DNA and histones express the genes?

A

No

201
Q

Results in loose packing of the nucleosomes, where genes are expressed

A

Acetylation of histones

202
Q

High transcriptional activity and loosely packed

A

Acetylation

203
Q

Low or no transcriptional activity and densely packed

A

Methylation

204
Q

Chromosome that forms this shape due to deletion in telomeres which cause ends to adhere

A

Ring chromosomes

205
Q

Are duplications deleterious?

A

No

206
Q

Example of a useful duplication in the evolution of new genetic material?

A

Position effect in Drosophila

207
Q

What do inversions alter in the genetic content?

A

Linear sequence of genetic information

208
Q

In an inversion heterozygote, the chromosomes _______ which inverts the gene

A

Twist into a loop

209
Q

Crossing over produces one acentric and one dicentric chromosome

A

Paracentric

210
Q

Crossing over results in duplications and deletions of genetic information

A

Pericentric

211
Q

The acentric chromosomes fault to move to either pole during paracentric inversion due to?

A

Lack of centromere

212
Q

Basic chromosome set is called?

A

Monoploid

213
Q

Set of chromosomes present in a gamete, irrespective of the chromosome number in the species

A

Haploid

214
Q

Can arise from genome duplications occurring before or after fertilization

A

Polyploids

215
Q

Abortive duplication that leads to the formation of unreduced gametes that have double normal complement of chromosomes

A

Endoreduplication

216
Q

t(9;22)(q34;q11)

A

CML

217
Q

inv(14)(q13q24)

A

Microcephaly

218
Q

48, XXXX

A

X tetrasomy

219
Q

47, XX +21

A

Down syndrome

220
Q

46, XX, upd(15) mat

A

Prader-Willi syndrome

221
Q

i, iso

A

Isochromosome

222
Q

Abbreviation t

A

translocation

223
Q

der

A

derivative chromosome

224
Q

Indicates chromosome number, sex chromosome constitution, and nature of the specific abnormality

A

Chromosomal shorthand

225
Q

47, XY +13

A

Male with Patau

226
Q

Female with Edwards Syndrome

A

47, XX +18

227
Q

Male with translocation between the short arm of the chromosome 7 at band 21.1 and long arm of chromosome 9 at band 34.1

A

46 XY t(7;9)(p21.1;q34.1)

2nd Year 2nd Term (38 decks)

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