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Cytogenetics > Structural Aberrations > Flashcards

Structural Aberrations Flashcards

1
Q

This is the meaning for ISCN.

A

International System for Human Cytogenetic Nomenclature

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2
Q

This is the concept wherein each area of chromosomes is given a number.

A

ISCN

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3
Q

This is the lowest number closes to the centromere.

A

Proximal

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4
Q

This is the highest number at the tip to the centromere.

A

Distal

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5
Q

This is how to read 3p22.

A

3p = 3rd Chromosome
2 = 2 band
2 = 2 sub-band

chromosome:band:sub-band

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6
Q

This is the meaning behind ptel and qtel.

A

“Tel” means telomere and p and q dictates which arm is being referred to.

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7
Q

This is the result from breakage of a chromosome region with loss or subsequent rejoining in an abnormal combination.

A

Structural Abnormalities

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8
Q

This general type of structural abnormality is based on the no loss or gain of genetic chromatin.

A

Balanced Rearrangements

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9
Q

This general type of structural abnormality is based on the gain or loss of genetic material.

A

Imbalanced Rearrangement

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10
Q

This rearrangement is the change in chromosomal gene order but do not remove or duplicate any of the DNA of the chromosomes.

A

Balanced Rearrangement

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11
Q

This rearrangement is changing the gene dosage of a part of the affected chromosome.

A

Imbalanced Rearrangement

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12
Q

This is the type of rearrangement when a chromosome is translocated or inverted.

A

Balanced Rearrangement

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13
Q

This is the type of rearrangement when a chromosome is deleted or duplicated.

A

Imbalanced Rearrangement

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14
Q

This type of aberration wherein a segment from a chromosome is transferred to another.

A

Translocation

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15
Q

This is a type of aberration wherein a segment of a chromosome is inverted.

A

Inversion

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16
Q

This is a type of aberration wherein a segment of a chromosome is lost.

A

Deletion

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17
Q

This is a type of aberration wherein a segment from one chromosome is transferred to its homologous chromosome.

A

Duplication

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18
Q

These are the reasons why structural aberrations may occur.

A

Errors during meiosis, mitosis, or exposure to substances (teratogens).

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19
Q

These are substances that causes congenital disorders.

A

Teratogens

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20
Q

This structural rearrangement is when a segment of a chromosome is reversed end to end.

A

Inversions

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21
Q

True or False: Inversions occur when 2 chromosomes undergo breakage and rearrange each other.

A

False, only single chromosomes undergo inversion within itself.

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22
Q

True or False: Inversion is inherited, or it can be a mutation that appears in a child whose family has no history.

A

True

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23
Q

True or False: Inversions is undetectable in the structure of a chromosome.

A

False, sometimes they can be seen in chromosome structure.

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24
Q

This type of inversion involves the centromere.

A

Pericentric Inversion

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25
Q

This type of inversion does not include the centromere.

A

Paracentric Inversion

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26
Q

This is one of the most common structural balanced chromosomal variants.

A

Chromosome 9 Inversion

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27
Q

These are cases associated with the inversion of the 9th chromosome.

A

Cancer (acute myeloid leukemia), congenital anomalies, infertility, growth retardation, and pregnancy lost.

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28
Q

This is the type of inversion the 9th chromosome inversion is.

A

Pericentric Inversion

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29
Q

This when a chromosome is deleted or missing.

A

Deletion

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30
Q

These are the two types of chromosome deletion.

A

Interstitial and Terminal Deletion

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31
Q

These are the other terms for the Cri-du-chat Syndrome.

A

5P Minus and Lejeune’s Syndrome

32
Q

This is the year and the one who discovered the Cri-du-chat Syndrome.

A

Jerome Lejeune in 1963

33
Q

This is the chromosome that gets deleted in the Cri-du-chat Syndome.

A

Chromosome 5

34
Q

This gene in the Cri-du-chat is responsible for DNA functioning.

A

HTERT gene

35
Q

This gene in the Cri-du-chat is responsible for cell adhesion, cell movement, and active NS.

A

CTNND2 gene

36
Q

This genetic aberration has features like high-pitched cat like cry, low birth weight, microcephaly, eyes wide apart, folds of skin over eyelids, palate abnormality, and ear malformity.

A

Cri-du-chat Syndrome

37
Q

This associative disorder is described as having an abnormally small head.

A

Microcephaly

38
Q

This is the deletion of the distal p arm of chromosome 4.

A

Wolf-Hirschhorn Syndrome

39
Q

This is the year and the one who discovered the Wolf-Hirschhorn Syndome.

A

Hirschhorn and Cooper in 1961

40
Q

This gene in the WH Syndrome is responsible for the distinctive facial appearance and development delay.

A

NSD2 gene

41
Q

This gene in the WH Syndrome is responsible for seizures or other abnormal electric brain activity.

A

LETM1 gene

42
Q

This gene is the WH Syndrome is responsible for dental abnormalities and cleft lip/palate.

A

MSX1 gene

43
Q

This genetic aberration features a broad, flat nasal bridge and high forehead resembling a Greek warrior’s helmet. Also features stunted growth and development, and delayed motor skills.

A

Wolf-Hirschhorn Syndrome

44
Q

This is the normal form of gene regulation that causes a subset of genes to be expressed from one of the two parental chromosomes.

A

Genomic Imprinting

45
Q

True or False: Only a handful of genes inherit working copies (one from mother and one from father).

A

False, most of the genes inherit working copies.

46
Q

True or False: Imprinting mostly involves one working copy from either parent.

A

True

47
Q

True or False: Genomic imprinting is epigenetically silenced.

A

True

48
Q

This is the reason silencing occurs in a gene through the addition of methyl groups during sperm and egg formation.

A

DNA Methylation

49
Q

This genetic aberration is due to the absence of the chromosome region 15.

A

Angelman Syndrome

50
Q

True or False: The Angelman Syndrome is due to the mutation of the UBE2A gene in the paternal chromosome 15 (q12)

A

False, the mutation is on the UBE3A gene in the maternal chromosome 15 (q12).

51
Q

This is the year and the one who discovered the Angelman Syndrome.

A

Harry Angelman in 1965

52
Q

This genetic aberration features delayed development, movement/balance disorder, behavioral uniqueness, and speech impairment.

A

Angelman Syndrome

53
Q

True or False: Prader-Willi Syndrome occurs from the absence of the maternal genes from chromosome 15q11-q15.

A

False, it occurs from the absence of the paternal gene chromosome 15q11-q13.

54
Q

This is the year and the one who discovered the Prader Willi Syndrome.

A

Prof. A. Prader, A. Labhart, and H. Willi in 1956

55
Q

This genetic aberration features hypotonia, hypogonadism, obesity, and CNS & endocrine gland dysfunction.

A

Prader-Willi Syndrome

56
Q

This associative disorder is described as a decrease in muscle tone due to muscle dystrophy or cerebral palsy.

A

Hypotonia

57
Q

This associative disorder is described to occur when the body’s sex glands produce little to no hormones.

A

Hypogonadism

58
Q

This type of ring chromosome is the result from breakage and reunion of a single chromosome with loss of chromosomal material outside the break points.

A

Double Strand Breaks

59
Q

This type of ring chromosomes is described when one or both telomeres may join to form a ring without significant loss of materials.

A

Telomere Dysfunction

60
Q

This type of ring chromosome also occurs when a broken end of a telomere fuses together to form a ring.

A

Telomere Dysfunction

61
Q

This genetic aberration features seizures and intellectual disability caused by epilepsy.

A

Ring Chromosome 14 Syndrome

62
Q

True or False: Ring Chromosome 14 Syndrome is caused by a double strand break.

A

False, it is caused by a telomere dysfunction.

63
Q

This a type of structural aberration occurs due to a partial trisomy for only part of a chromosome.

A

Duplication

64
Q

True or False: Duplications is only present during cells that undergo mitosis.

A

False, both mitosis and meiosis can form unbalanced insertions or unequal crossovers due to duplication.

65
Q

This type of structural aberration arises from either abnormal division of the centromeres.

A

Isochromosomes

66
Q

This type of structural aberration results in each daughter cells duplicates either p arm or q arm.

A

Isochromosomes

67
Q

True or False: Isochromosomes undergo vertical division.

A

False, they undergo horizontal division.

68
Q

This type of structural aberration involves the movement of a chromosomal segment from one location to another of the same or another chromosome.

A

Insertions

69
Q

This type of structural aberration occurs when a chromosome breaks into two pieces and each piece reunites with another non-homologous chromosome.

A

Translocation

70
Q

True or False: A balanced translocation happens when a chromatin is neither lost nor gained in the exchange.

A

True

71
Q

True or False: An unbalanced translocation happens when there is a loss or gain of chromatin material that results in complete monosomy or trisomy of a chromosome segment.

A

False, the loss/gain would only produce a partial trisomy or monosomy.

72
Q

This is an example of an unbalanced translocation wherein majority of chromosome 21 is attached to chromosome 14.

A

Down Syndrome

73
Q

This is a type of translocation wherein parts of two chromosomes breaks off and reattaches to each other’s broken ends.

A

Reciprocal Translocation

74
Q

This type of structural aberration occurs when the centromeres of two acrocentric chromosomes fuse to generate one large chromosome.

A

Robertsonian Translocation

75
Q

True or False: Translocation is when genetic material is added from another chromosome while insertion is genetic material swapped with another chromosome.

A

False, insertion is genetic material added to another chromosome and translocation is swapped.

Cytogenetics (15 decks)

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