Genetica Flashcards

1
Q

Cual es la incidencia del sindrome de down:

A

1,3/100

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2
Q

Cual es la causa mas comun de un sindrmoe de down

A

Trisomia regular o libre (Tres cromosomas 21 )
47, XX/XY +21

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3
Q

Que porcentaje de los productos con sindrome de down se vuelven abortos:

A

65-80%

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4
Q

Cual es la alteracion cromosomica mas comunmente asociada a sindrome de down:

A

No disyuncion en la meiosis 1

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5
Q

Cual es la translocacion mas comunmente asociada a sindrome de down:

A

14;21 (rob14q21q)

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6
Q

Cual es la cardiopatia congenita aislada mas comun en sindrome de down:

A

CIA(Comunicacion interauriculalr)

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7
Q

SIgno patocnomonico encontrado en los ojos de los nichos con sindrome de down:

A

Manchas de Brushfield

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8
Q

Menciona cuales son los criterios de hall:

A

Hipotonia
Reflejo de moro escaso
Laxitud articular
Pliegue nucal redundante
Perfil facial plano
Fisura palpebral oblicua
Pabellones auriculares implantacion abjo

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