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Cytogenetics > Chromosomal Aberrations > Flashcards

Chromosomal Aberrations Flashcards

1
Q

Occur when there is a defect in a chromosome, or in the arrangement of the genetic material on the chromosome.

A

Chromosomal abnormalities

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2
Q

If there is an error in cell division, the egg or sperm can end up with too many or not enough chromosomes.

[etiology]

A

Meiosis

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3
Q

If the chromosome do not split into halves, the new cells can have an extra chromosome or have a missing chromosome.

[etiology]

A

Mitosis

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4
Q

Eggs are also aging and may have the incorrect number of chromosomes at the time of fertilization.

[etiology]

A

Maternal age

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5
Q

It describes a relationship between two people who share a common ancestor or shared a blood relationship.

[etiology]

A

Consanguinity

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6
Q

It is teratogenic.

[etiology]

A

Radiations

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7
Q

It may include medications, foods, etc.

[etiology]

A

Environment

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8
Q

[5] Numerical

A
  1. Monosomy
  2. Trisomy
  3. Tetrasomy
  4. Triploidy
  5. Tetraploidy
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9
Q

[6] Structural

A
  1. Deletion
  2. Translocation
  3. Insertion
  4. Isochromosome
  5. Ring chromosome
  6. Duplication
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10
Q

One chromosome is missing.

[numerical]

A

Monosomy

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11
Q

When a chromosome does not separate properly during Meiosis I or II it is called as?

[numerical]

A

Meiotic nondisjunction

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12
Q

It is incompatible with survival because of loss of too much genetic information.

[numerical]

A

Monosomy

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13
Q

3 instances of a particular chromosome are present instead of normal 2 chromosomes.

[numerical]

A

Trisomy

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14
Q

Occurs if the chromosomes fail to separate properly during cell division.

[numerical]

A

Trisomy

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15
Q

It is a deviation of an abnormal number of chromosomes in which an additional chromosome pair is added to a particular chromosome.

[numerical]

A

Tetrasomy

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16
Q

A cell contains 48 chromosomes.

[numerical]

A

Tetrasomy

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17
Q

There is a complete set of extra chromosome.

[numerical]

A

Triploidy

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18
Q

Two extra chromosome set are pre

[numerical]sent. So, a cell contains 92 chromosomes.

A

Tetraploidy

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19
Q

Not compatible with life.

[numerical]

A

Tetraploidy

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20
Q

It means of loss of small portion of chromosome.

[structural]

A

Deletion

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21
Q

Occurs from breakage at random in both chromatids of a chromosome or only in one chromatid.

[structural]

A

Deletion

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22
Q

Sometimes a segment of a chromosome becomes detached and unites with another non-homologous chromosome.

[structural]

A

Translocation

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23
Q

[2] types of Translocation

A
  1. Simple
  2. Reciprocal
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24
Q

A fragment is transferred from a chromosome to a non-homologous chromosome.

[structural]

A

Insertion

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25
Q

It is a rare non-reciprocal type of translocation which involves three breaks.

[structural]

A

Insertion

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26
Q

This results in having extra genetic material, even though usually normal.

[structural]

A

Duplication

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27
Q

May cause affected genes to not function properly.

[structural]

A

Duplication

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28
Q

These extra instructions can lead to errors in the development of a baby.

[structural]

A

Duplication

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29
Q

It results when there are two breaks in a chromosome and the detached segment becomes reinserted in the reverse order.

[structural]

A

Inversion

30
Q

[2] types of Inversion

A
  1. Paracentric
  2. Pericentric
31
Q

Both breaks in one arm of chromosome.

[inversion]

A

Paracentric

32
Q

It has breakpoints on either side of the centromere.

[inversion]

A

Pericentric

33
Q

It is a chromosome that has lost one of its arm and replaced it with an exact copy of the other arm.

[structural]

A

Isochromosome

34
Q

It is a chromosome whose arms have fused together to form a ring.

[structural]

A

Ring chromosome

35
Q

Happens due to the trisomy for chromosome 21.

[syndrome]

A

Down syndrome

36
Q

The most common autosomal aneuploidy among live-borns.

[syndrome]

A

Down syndrome

37
Q

This syndrome is also known as ‘Mongolism’ or ‘Mongolian idiocy’.

[syndrome]

A

Down syndrome

38
Q

Persons with this syndrome shows a strong mental retardation.

[syndrome]

A

Down syndrome

39
Q

Their body is short about 120cm with stubby fingers.

[syndrome]

A

Down syndrome

40
Q

They also possess wide nostrils, swollen tongue, monkey-like skin ridges on extremities. The most queer feature is the epicanthic fold— the prominent eyelid folds like those of Mongolian people. The persons usually survive about sixteen years.

[syndrome]

A

Down syndrome

41
Q

Prompted Sir John Langdon Haydon Down to term the condition to Mongoloid (1866).

[syndrome]

A

Epicanthal fold

42
Q

Happens due to trisomic condition in chromosome no. 13.

[syndrome]

A

Patau syndrome

43
Q

The persons suffering from this syndrome show harelip, cleft palate, and serious cerebral, ocular and cardiovascular defects.

[syndrome]

A

Patau syndrome

44
Q

Average survival is about three months; a few live up to five years.

[syndrome]

A

Patau syndrome

45
Q

In this syndrome there is an extra chromosome 13.

[syndrome]

A

Patau syndrome

46
Q

Happens due to the trisomic condition for the chromosome no. 18.

[syndrome]

A

Edward syndrome

47
Q

The syndrome is characterized by mental deficiency; multiple congenital malformations affect virtually every organ system.

[syndrome]

A

Edward synrome

48
Q

Great physical and mental abilities (6-month level).

[syndrome]

A

Edward syndrome

49
Q

Babies suffering from this syndrome usually die within a year. In some rare cases they survive up to their teen years.

[syndrome]

A

Edward syndrome

50
Q

It is caused by the presence of three – as opposed to two – copies of chromosome 18 in a fetus’ or infant’s cells.

[syndrome]

A

Edward syndrome

51
Q

Large toes (fused 2nd and 3rd) and “Rocker-Bottom” Feet.

[syndrome]

A

Edward syndrome

52
Q

Male aneuploidy.

[syndrome]

A

Klinefelter’s syndrome

53
Q

47, XXY Karyotype

[syndrome]

A

Klinefelter’s syndrome

54
Q

Happens due to the trisomic condition for the sex chromosomes (XXY).

[syndrome]

A

Klinefelter’s syndrome

55
Q

Individuals possessing this syndrome are phenotypically males but with some tendency toward femaleness, particularly in secondary sex characteristics.

[syndrome]

A

Klinefelter’s syndrome

56
Q

The condition exists in roughly 1 out of every 650 males. One in every 500 males has an extra X chromosome but may not show symptoms. Other mammals also have the XXY syndrome, including mice.

[syndrome]

A

Klinefelter’s syndrome

57
Q

Principal effects include hypogonadism and reduced fertility.

[syndrome]

A

Klinefelter’s syndrome

58
Q

Female aneuploidy.

[syndrome]

A

Turner syndrome

59
Q

Named after Henry Turner (1938).

[syndrome]

A

Turner syndrome

60
Q

45, X Karyotype ; XO Syndrome.

[syndrome]

A

Turner syndrome

61
Q

Happens due to monosomy for X chromosome i.e. the individuals possess one normal X, while the short arm of the other X is missing.

[syndrome]

A

Turner syndrome

62
Q

Therefore adults with Turner Syndrome are females having virtually no ovaries.

[syndrome]

A

Turner syndrome

63
Q

The secondary sex characters are also poorly developed. Besides, they show short stature, low set ears, webbed neck and a shield-like chest.

[syndrome]

A

Turner syndrome

64
Q

But it is interesting that these individuals generally do not show any mental retardation.

[syndrome]

A

Turner syndrome

65
Q

Turner syndrome aka?

[syndrome]

A

Ullrich-Turner Syndrome or “Gonadal dysgenesis”

66
Q

Also known as “Gonadal dysgenesis”.

[syndrome]

A

Turner syndrome

67
Q

Encompasses several conditions, of which monosomy X (absence of an entire sex chromosome, the Barr body) is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent (unaffected humans have 46 chromosomes, of which two are sex chromosomes).

[syndrome]

A

Turner syndrome

68
Q

Also a Female aneuploidy like turner syndrome.

A

Triple X

69
Q

47, XXX Karyotype

A

Triple X

70
Q

Also known as Trisomy X, XXX Syndrome.

A

Triple X

71
Q
A

Cytogenetics (14 decks)

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