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Advanced Human Genetics > Translocations > Flashcards

Translocations Flashcards

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Biology 101 flashcards
1
Q

Interstitial deletion/duplication

A

Within the chromosome

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2
Q

Insertion

A

A segment of one chromosome is inserted into another chromosome

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3
Q

Inversion

A

Reversal of orientation of the intervening portion between breaks in the chromosome

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4
Q

Paracentric

A

2 breaks in one arm

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5
Q

Pericentric

A

One break in each arm

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6
Q

Isochromosome

A

Complete absence of one of the chromosome arms with complete duplication of the other chromosome arm

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7
Q

Balanced translocation

A

No essential chromosome material is lost and no genes are damaged during break and reunion

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8
Q

Reciprocal translocation

A

Exchange of chromosomal material between non-homologous chromosomes

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9
Q

Robertsonian translocation

A

Between two acrocentric chromosomes by fusion at the centromere with loss of the short arm and satellites

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10
Q

Single segment exchange

A

When one of the translocated segments is very small and comprises only the telomeric region of a chromosome

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11
Q

Double segment exchange

A

When both translocated segments are large

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12
Q

2:2 segregation

A

Two chromosomes go to one cell and two to the other

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13
Q

3:1 segregation

A

3 chromosomes go to one cell and one to the other

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14
Q

4:0 segregation

A

All 4 homologs go to one cell

Not viable

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15
Q

Alternate segregation

A

Balanced

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16
Q

Adjacent-1 segregation

A

Unlike centromeres travel together

More viable

17
Q

Adjacent-2 segregation

A

Like centromeres travel together

Not very viable

18
Q

Tertiary trisomy

A

Two normal chromosomes and 1 translocation chromosome

19
Q

Interchange trisomy

A

2 translocation chromosomes and 1 normal chromosome

20
Q

Robertsonian Alternate Segregation

A

Produces normal and balanced gametes

21
Q

Robertsonian Adjacent Translocations

A

2 types of disomic and nullisomic gametes

22
Q

Terminal deletion/ duplication

A

At the end of a chromosome

23
Q

4 factors that affect the risk of translocations leading to abnormal birth

A
  1. The mode of ascertainment
  2. The expected mode of segregation leading to potential viable gametes
  3. The sex of the transmitting parent
  4. The assessed imbalance of the potentially viable gamete
24
Q

3 possible mechanisms for robertsonian heterologous translocations

A
  1. Centric fusion
  2. Union following breakage in one short arm and one long arm
  3. Union following breakage in both short arms

Advanced Human Genetics (12 decks)

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