Enfermedades Flashcards

1
Q

Sx de turner:

A

monosomía/ mosaicismo cromosoma x

Solo en niñas

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2
Q

Localización de gen diabtes mellitus 1

A

6p21.3

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3
Q

Genes hipertensión arterial congénita:

A
  • 17q23
  • Gen angiotensinógeno
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4
Q

Gen distrofia de Duchene:

A

Xp21.2

distrofina

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5
Q

Anemia falciforme gen

A

B-globina

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6
Q

Fenilcetonuria:

A
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7
Q

Sx de Emanuel

A
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8
Q

Diabetes Mellitus Neonatal Transitoria:

A

Inversión pericéntrica del cormosoma 9

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