Disomia Uniparentsl/Impronta Genomica Flashcards

1
Q

Cr de Prader Willi

A

15q11

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2
Q

Gen de Prader Willi

A

SNRPN

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3
Q

Dx de Prader Willi

A

MS Y MLPA/PCR

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4
Q

Cr de Angelman

A

15q11

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5
Q

Gen de Angelman

A

UBE3A

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6
Q

Cr de Silver Russel

A

11p15.5

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7
Q

Gen de Sd Silver Russel

A

H19 en IGF2

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8
Q

Dx de Silver Russel

A

PCR METILADA

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9
Q

Cr de Beckwith Wiedemann

A

11p15.5

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10
Q

Gen de Beckwith Wiedemann

A

Gen inhibidor de kinasa dep. De cíclica 1C (CDKN1C) y IGF2

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11
Q

Dx de Beckwith Wiedemann

A

PCR, MS, MLPA

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