Structural Aberrations: Deletions and Ring Chromosome Flashcards

1
Q

This refers to a loss of any part of a chromosome.

A

Deletion

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2
Q

Deletions arise from:

A

loss of a portion of the chromosome between two breakpoints (interstitial deletions)

as a result of unequal crossing-over

as a result of a parental translocation

as a terminal deletion.

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3
Q

In terminal deletion, the deletion continues proximally until a DNA region homologous to telomere sequences is reached. Here, the enzyme _____ is able to synthesise a new telomere and so arrest the deletion.

A

telomerase

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3
Q

T/F. In terminal deletion, the deleted portion lacks a centromere (an acentric fragment) and will be lost at a subsequent cell division.

A

True

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3
Q

If the ring has a centromere, then it may be able to pass through cell division. A sister chromatid exchange within a ring results in a ___ ring of ____ the size in subsequent divisions

A

dicentric; twice

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4
Q

This arises from breaks in both arms of a chromosome: the terminal ends are lost and the two proximal sticky ends unite to form a ring.

A

Ring chromosome

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5
Q

Deletions of a size close to the limit of resolution with the light microscope are termed _____ and molecular techniques have been developed to aid their detection

A

microdeletions

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