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Genetica > Mosaicismk Somatico , Germinal, Herencia Mitocondria > Flashcards

Mosaicismk Somatico , Germinal, Herencia Mitocondria Flashcards

1
Q

Hipomelanosis de Ito
Tipo d enf

A

Mosaicismo Somatico

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2
Q

Macula’s hipopigmentadas/hiperpigmentadas siguen líneas BLashcko
Discapacidad intelectual
Convulsiones

A

Hipomelanosis de ito

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3
Q

Atrofia Óptica de Leber genes y el mas grave

A

Gen NDN1
ND4 mas grave
ND6

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4
Q

Sustitución de adenina por guanina

A

Atrofia óptica de leber

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5
Q

Pérdida de la visión central
Sd de preexcitacion cardiaca
Degeneración de la retina
Telangiectasias peripapilares

A

Atrofia óptica de leber

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6
Q

Síndrome de Merrf mutación

A

Gen MTTK, MTTL
Mutación. De lisina: adenina por guanina

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7
Q

Enfermedad de epilepsia mioclonica y fibras rasgadas Sx y dx

A

Ataxia cerebelosa
Sordera
Demencia
Fibras rojas rasgadas
Dx biopsia de músculo con tincion triconico gomori

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8
Q

GEN MTTL, MTTQ, MTTH

A

Síndrome de Melas ( encéfalopatia mitocondrial, acidosis láctica,

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9
Q

Acidosis láctica
Retinopatía pigmentaría
Vómitos cefaleas

A

Síndrome de melas

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10
Q

Enfermedad huntington mutación y penetrancia

A

Mutación gen HD
Penetrancia reducida 36-39
Penetrancia del 100% >40 repeticiones

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11
Q

Expansion CAG: proteína glutamina

A

Huntington
Normal <36 repeticiones
Hay deterioro motor, cognitivo, alteraciones del comportamiento

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12
Q

19q13 gen DMPK

A

Distrofia miotonica

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13
Q

Distrofia Miotonica tipo 1

A

Enf de steinert
Congénita, transmisión materna , labio superior en V

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14
Q

Triplete CTH normal <30

A

Distrofia miotonica

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15
Q

Distrofia tipo 2

A

Miopatia distal gen CCTG

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16
Q

Ataxia de Friedreich

A

Autosomica recesiva
Gen FXN 9q13

17
Q

Repetidos GAA normal 5-33

A

Afectado >66 o mas repeticiones
Ataxia friedreich

18
Q

Inicia 10-15 con ataxia lentamente progresiva
Alteraciones de marcha
Escoliosis
Arreflexia
Disfasia y disartria

A

Ataxia friedreich

Genetica (16 decks)

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