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GBE - Genomics > Chromosome Abnormalities and Genomic Rearrangements > Flashcards

Chromosome Abnormalities and Genomic Rearrangements Flashcards

1
Q

What are some traditional cytogenetics?

A

G banding
FISH
Breakage

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2
Q

What are some molecular cytogenetics?

A

QF-PCR
MLPA
Array CGH

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3
Q

How does aneuploidy come about?

A

Non-disjunction at mitosis and meiosis

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4
Q

What is a genetic mosaic

A

The presence of one individual who has developed from a fertilised egg of two or more genetic populations of cells with different genotypes

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5
Q

What are the 3 types of mosaic isn?

A

Somatic - result in abnormal phenotype
Gonadal - during formation of germ cells
CPM - compromise function of placenta

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6
Q

What is robertsonian translocation?

A

A chromosomal abnormality wherein a certain type of a chromosome becomes attached to another

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GBE - Genomics (18 decks)

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