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Pediatria > Genetica > Flashcards

Genetica Flashcards

1
Q

Quais alteraçoes sindrome alcoolica fetal?

A

Baixo peso ao nascer , fissuras palpebrais estreitas , prega epicantica , microftalmia

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2
Q

Qual investigaçao periodicamente na trissomia do 21?

A

Hipotireoidismo , luxaçao atlanto axial , leucemia

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3
Q

O que é doença pope?

A

Glicogenose tipo 2

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4
Q

O que cursa doença de pope?

A

Fraqueza muscular progressiva , cardiomegalia e alteraçoes ecg

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5
Q

Quais caracteristicas da sindrome de down ?

A

Prega epicantica
Fenda palpebral obliqua
Pescoço curto
Ponte nasal achatada

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6
Q

Qual tipo de alteraçao henetica da sindrome de down?

A

Mossicismo e translocaçao

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Pediatria (20 decks)

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