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3P. Genética > Trastornos Genómicos > Flashcards

Trastornos Genómicos Flashcards

1
Q

Trastorno genético

A

-Sindromes o desórdenes genómicos causados por alteraciones del genoma.
-Provocan la ganancia o pérdida de genes o provoca disrupciones.

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2
Q

Tipos CNV

A

-Recurrente.
-No recurrente.

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3
Q

CNV Recurrentes

A

Por recombinación homóloga no alélilca durante la meioisis.

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4
Q

LCR

A

Bloques repetidos de bajo número: zonas que suelen deletarse o duplicarse.

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5
Q

Microdeleción + común

A

22q11.2

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6
Q

Sindrome de Williams

A

7q11.23

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7
Q

Sindrome velocardiofacial (DiGeorge)

A

22q11.2

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8
Q

Sindrome de delecion

A

1p36

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3P. Genética (12 decks)

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