Genética Flashcards

1
Q

Causa del sx de insensibilidad a andrógenos

A

causa mas comun de pseudohermafroditismo verdadero

muta gen del receptor de abdrogenos en el locus Xq11-12

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2
Q

paraclinicis en sx insensibilidad a androgenos

A

eleva testosterona, estrogeno y LH

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3
Q

principal signo clinico de sx X fragil

A

retraso

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4
Q

Oligomeganofrenia

A

variante de hipoplasia en la q nefronas disminuye un 80% y las existentes tienen una hipertrofia

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