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[MT 6315] Cytogenetics 2nd Shift > [2.1] Chromosomal Mutations > Flashcards

[2.1] Chromosomal Mutations Flashcards

1
Q

also known as Chromosomal aberrations

A

Chromosomal Mutations

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2
Q

Chromosomal abnormalities:
Abnormal Number

A

Aneuploidy

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3
Q

Chromosomal abnormalities:
Alterations

A

Structural

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4
Q

Variation of 2 Chromosomal Mutation

A
  1. Chromosome Structure
  2. Chromosome Number
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5
Q

4 chromosome structure

A
  1. Duplication
  2. Deletion
  3. Inversion
  4. Translocation
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6
Q

2 chromosome number

A
  1. Aneuploidy
  2. Polyploidy
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7
Q

One or more individual chromosome pair, either “up” or “down”

A

Aneuploidy

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8
Q

If normal = 46 chromosome,
then _______ = 45 chromosome or 47 chromosome

A

Aneuploidy

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9
Q

One or more complete chromosomes sets added

A

Polyploidy

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10
Q

If normal = 2n, then _____= 3n, 4n, 5n, etc…

A

Polyploidy

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11
Q

Failed to separate or segregate at anaphase

A

Non-disjunction

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12
Q

Two or more different cell lines in one person

A

Mosaicism

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13
Q

Doubling of segment of a chromosome

A

Duplication

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14
Q

3 Forms of Duplication

A
  1. Tandem duplication
  2. Reverse duplication
  3. Terminal tandem duplication
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15
Q

Example:

ABCD·EFEFGH

A

Tandem duplication

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16
Q

Example:

ABCD·FEEFGH

A

Reverse duplication

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17
Q

Example:

ABABCD

A

Terminal Tandem duplication

[Starts at the END]

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18
Q

4 Effects of Duplication

A
  1. Utero reproduction
  2. Craps shoot
  3. During Prophase 1 and M, Synapsis
  4. Unbalanced gene dosage
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19
Q

3 syndrome of Duplication

A
  1. Pallister Killian syndrome (extra #12 chromosome)
  2. Potocki-Lupski syndrome (17p11.2)
  3. Fragile X syndrome (Xq27)
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20
Q

Syndrome of Duplication:
Extra 12 chromosome, intellectual disability, prominent forehead, poor muscle tone, coarse facial features

A

Pallister Killian syndrome

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21
Q

Syndrome of Duplication:
Extra copy small of 17 chromosome, weak muscle tone, swallowing difficulty

A

Potocki-Lupski syndrome

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22
Q

Syndrome of Duplication:
also known as “17p11.2”

A

Potocki-Lupski syndrome

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23
Q

Weak muscle tone is called

A

Hypotonia

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24
Q

Swallowing difficulty is called

A

Dysphagia

25
Q

Syndrome of Duplication:
Multiple duplication of CGG - FMR1 gene, causes PROGNATHISM

A

Fragile X syndrome

26
Q

Syndrome of Duplication:
also known as “Xq27”

A

Fragile X syndrome

27
Q

Loss of segment of a chromosome

A

Deletion

28
Q

caused by agents such as heat, ionizing radiation, viruses, etc…

A

Deletion

29
Q

also known as “Looping out” in Prophase 1 than focuses on recessive alleles

A

Deletion

30
Q

3 Types of Deletion

A
  1. Terminal
  2. Intercalary/Interstitial
  3. Microdeletion
31
Q

Types of Deletion:
Towards the END of a chromosome

A

Terminal

32
Q

Types of Deletion:
INFERIOR of a chromosome

A

Intercalary or Interstitial

33
Q

Types of Deletion:
Small amount of deletion

A

Microdeletion

34
Q

True or False:
Larger amount of microdeletion can cause abortion or miscarriage

A

True

35
Q

3 Effects of Deletion

A
  1. Deletion w/ centromere, chromosome will NOT segregate
  2. Gene imbalance
  3. Frameshift mutations
36
Q

Syndrome or examples of Deletion

A
  1. Cri du chat syndrome
  2. Chronic Lymphocytic leukemia
    3.Spinal muscular atrophy
  3. Angelman Syndrome
  4. DiGeorge syndrome
  5. Wilms Tumor
  6. Retinoblastoma
  7. Prader-Willi syndrome
37
Q

Syndrome of Deletion:
5p-, Catlike cry

A

Cri du chat syndrome

38
Q

Syndrome of Deletion:
11q-, Kidney tumor, genital, urinary tract abnormalities

A

Wilms Tumor

39
Q

Syndrome of Deletion:
13q-, Eye cancer, higher risk for cancer

A

Retinoblastoma

40
Q

Syndrome of Deletion:
15q-, infant: weak slow growth, child/adult: obesity

A

Prader-Willi syndrome

41
Q

Reintegrated in 180 degrees of original orientation

A

Inversion

42
Q

2 forms of Inversion

A
  1. Pericentric Inversion
  2. Paracentric Inversion
43
Q

Forms of Inversion:
Involves centromere

A

Pericentric Inversion

44
Q

Effects of Inversion

A
  1. Pan troglodytes - chimpanzee at chromosome 4
  2. breaks half= inactive
45
Q

Syndrome of Inversion

A

Brenden’s 12 chromosome [HMGA2]

46
Q

Change in position of chromosome segregate

A

Translocation

47
Q

No gain or loss of genetic material

A

Translocation

48
Q

2 Forms of Translocation

A
  1. Intrachromosomal
  2. Interchromosomal
49
Q

Forms of Translocation:
Change in position of chromosome segment within the SAME CHROMOSOME

A

Intrachromosomal

50
Q

Forms of Translocation:
Transfer from one chromosome to nonhomologous chromosome and are non-reciprocal

A

Interchromosomal

51
Q

ABCD·EFGH
STUV·WXYZ
_________________
AB·EFGH
STUV·WCDXYZ

A

Normal Translocation

52
Q

ABCD·EFGH
STUV·WXYZ
_________________
AXYB·EFGH
STUV·WCDZ

A

Reciprocal Translocation

53
Q

Robertsonian Translocation is also known as

A

Down syndrome

54
Q

2 Types of Interchromosomal Translocation

A
  1. Reciprocal
  2. Non-reciprocal
55
Q

Type of Interchromosomal Translocation:
Exchange of segments between two chromosome

A

Reciprocal

56
Q

Type of Interchromosomal Translocation:
Transfer of segment in one direction from one chromosome to another

A

Non-reciprocal

57
Q

Short arms and long arms of same chromosome join at at the centromere, creates two copies of a large genetic region

A

Isochromers

58
Q

Special cases of joining at centromere, occurs between chromosomes that has tiny short arms (acrocentric)

A

Robertsonian Translocation

[MT 6315] Cytogenetics 2nd Shift (4 decks)

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