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GENETICA > Mosaicismo > Flashcards

Mosaicismo Flashcards

1
Q

Enfermedad que puede ocasionar la neurofibromatosis tipo 1

A

Von recklinghausen

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2
Q

Gen y locus de neurofibromatosis tipo 1

A

Gen NF1
Locus: 17q11

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3
Q

Qué es mosaicismo

A

1 individuo con 2 líneas celulares genéticamente diferentes.

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4
Q

Características de la neurofibromatosis tipo 1

A

Autosómico dominante
Manchas café con leche
Nódulos lisch
Meningioma

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5
Q

Características de la Neurofibromatosis segmentaria

A

Mosaicismo
Líneas de blaschko
Hipomelanosis de ito

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6
Q

Características de mosaicismo germinal

A

Padre no expresa pero hijos si
-Osteogenesis imperfecta
Hemofilia A y B DMD
Acondroplasia

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GENETICA (10 decks)

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