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GENETICA > Sd. X Frágil y Distrofia Miotonica > Flashcards

Sd. X Frágil y Distrofia Miotonica Flashcards

1
Q

Patron de herencia de X Fragil

A

Ligado al X

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2
Q

Repetición de X Frágil

A

CGG

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3
Q

Gen afectado en X Frágil

A

FMR1

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4
Q

Localización en el gen

A

Region 5’ no traducida

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5
Q

Causas de X Frágil

A

Discapacidad intelectual y habla, macrocefalia, cara alargado, cara y mentón prominentes, orejas grandes y despegadas

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6
Q

En quien existe mayor penetrancia en X Frágil?

A

Mujeres 60%

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7
Q

Patron de herencia de D. miotonica

A

Miopatia autosomico dominante

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8
Q

Cual es la expansión de D. miotonica?

A

Expansion de triplete CTG

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9
Q

Gen D. Miotonica

A

DMPK 19Q13.3

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GENETICA (10 decks)

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