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Genética > Síndromes, clasificación. > Flashcards

Síndromes, clasificación. Flashcards

1
Q

Sx. de Down

A

Cromosómica

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2
Q

Sx. de Klinefelter

A

Cromosómica

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3
Q

Trisomía 13

A

Cromosómica

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4
Q

Trisomía 18

A

Cromosómica

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5
Q

Sx. de Turner

A

Cromosómica

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6
Q

Poliposis cólica adenomatosa

A

Monogénica

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7
Q

Poliquistosis renal adulta

A

Monogénica

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8
Q

Deficiencia de alfa-antitripsina

A

Monogénica

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9
Q

Fibrosis quística

A

Monogénica

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10
Q

Distrofia muscular de Duchenne

A

Monogénica

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11
Q

Hipercolesterolemia familiar

A

Monogénica

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12
Q

Sx. de cromosoma X frágil

A

Monogénica

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13
Q

Hemocromatosis (hereditaria)

A

Monogénica

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14
Q

Hemofilia A

A

Monogénica

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15
Q

Cáncer colorrectal hereditario no asociado a poliposis

A

Monogénica

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16
Q

Enfermedad de Huntington

A

Monogénica

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17
Q

Sx. de Marfán

A

Monogénica

18
Q

Distrofia miotónica

A

Monogénica

19
Q

Neurofibromatosis de tipo 1

A

Monogénica

20
Q

Osteogénesis imperfecta

A

Monogénica

21
Q

Fenilcetonuria

A

Monogénica

22
Q

Retinoblastoma

A

Monogénica

23
Q

Drepanocitosis

A

Monogénica

24
Q

Enfermedad de Tay-Sachs

A

Monogénica

25
Q

Talasemia

A

Monogénica

26
Q

Malformaciones congénitas

A

Multifactorial congénita

27
Q

Labio leporino con o sin fisura palatina

A

Multifactorial congénita

28
Q

Pie zambo (talipes equinovarus)

A

Multifactorial congénita

29
Q

Defectos cardiacos congénitos

A

Multifactorial congénita

30
Q

Defectos del tubo neural (espina bífida, anencefalia)

A

Multifactorial congénita

31
Q

Alcoholismo

A

Multifactorial adulta

32
Q

Enfermedad de alzheimer

A

Multifactorial adulta

33
Q

Trastorno afectivo bipolar

A

Multifactorial adulta

34
Q

Cáncer (todos los tipos)

A

Multifactorial adulta

35
Q

Diabetes (tipo 1 y 2)

A

Multifactorial adulta

36
Q

Enfermedad coronaria o ictus

A

Multifactorial adulta

37
Q

Esquizofrenia

A

Multifactorial adulta

38
Q

Sx. de Kaerns- Sayre

A

Multifactorial mitocondrial

39
Q

Neuropatía óptica hereditaria de Leber (LHON)

A

Multifactorial mitocondrial

40
Q

Episodios de pseudoictus, encefalopatía mitocondrial y acidosis láctica (MELAS)

A

Multifactorial mitocondrial

41
Q

Epilepsia mioclónica y fibras rojas desestructuradas (MERRF)

A

Multifactorial mitocondrial

Genética (10 decks)

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