Structural Variation Flashcards

1
Q

What are the chromosomal outcomes of a pericentric inversion?

A

Pericentric inversions produce balanced and unbalanced chromosomes.

If unbalanced, there will be deletions at the ends and duplications at the ends.

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2
Q

What is the memory aid for paracentric inversions?

A

A for Absent alleles.

Paracentric inversions produce balanced or dicentric chromosomes. If dicentric, the der Chr will be invisible and MISSING from progeny.

So paracentric is less severe for progeny.

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3
Q

What is a paracentric inversion

A

An inversion that does not involve the centromere.

Produces dicentric or balanced chromosomes.

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4
Q

What is a pericentric inversion?

A

An inversion that involves the centromere.

Pericentric inversions produce UNbalanced and balanced chromosomes.

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5
Q

What is the commonly given probability of an unbalanced chromosome being produced from a pericentric inversion

A

Commonly quoted as 5-10 percent risk for unbalanced progeny per TT.

Risks vary for each inversion.

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6
Q

Larger pericentric inversions have a smaller or larger del/dupe area?

A

Larger pericentric inversions produce a smaller del/dupe region on the derivative chromosome.

So smaller inversions have a more severe outcome!

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7
Q

What is the memory aid for pericentric inversions?

A

I for Involves the centromere.

Pericentric inversions can produce balanced OR unbalanced chromosomes with deletions and duplications at the terminal ends.

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