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Genetica > Deficiencia De 5-alfa-reductasa > Flashcards

Deficiencia De 5-alfa-reductasa Flashcards

1
Q

¿Cuál es la principal alteración característica fenotipica causada en estos Px?

A

Pseudohermafrodismo

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2
Q

¿Cuál es el gen mutado?

A

SRD5A2

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3
Q

El complejo DHT-receptor es responsable del desarrollo de:

A

Genitales externos masculinos

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4
Q

El complejo T-receptor es responsable del desarrollo de:

A

Genitales internos masculinos

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5
Q

4 criterios para Dx

A

*genotipo 46XY
*>testosterona
*

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6
Q

¿Qué cariotipo tienen los Px con este Sx?

A

46XY

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7
Q

¿Cuál es el tipo de herencia de este Sx?

A

Autosomica recesiva

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Genetica (35 decks)

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