Mutations and Genetic Analysis Flashcards

1
Q

Translocation - pieces of chromosomes rearranged but no genetic material is gained or lost in the cell.

A

Balanced Translocation

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2
Q

Exchange of chromosome material is unequal resulting in extra or missing genes

A

Unbalanced Translocation

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3
Q

Only acrocentric chromosomes affected in this translocation

A

Robertsonian Translocation

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4
Q

Name acrocentric chromosomes

A

13,14,15,21,22

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5
Q

Robertsonian Translocation

A

45 chromosomes
Two acrocentric chromosomes attach - common 13+14
14+21, 15+22
carrier is healthy
baby healthy if normal chromosome 13 and 14 passed, and if only one translocated (containing 13 and 14 passed)

problem - if translocated and on standalone chromosome passed - baby have extra - trisomy of either 13(patau - miscarry or some may survive) or 14(miscarry)

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