Disomia Uniparentsl/Impronta Genomica Flashcards
1
Q
Cr de Prader Willi
A
15q11
2
Q
Gen de Prader Willi
A
SNRPN
3
Q
Dx de Prader Willi
A
MS Y MLPA/PCR
4
Q
Cr de Angelman
A
15q11
5
Q
Gen de Angelman
A
UBE3A
6
Q
Cr de Silver Russel
A
11p15.5
7
Q
Gen de Sd Silver Russel
A
H19 en IGF2
8
Q
Dx de Silver Russel
A
PCR METILADA
9
Q
Cr de Beckwith Wiedemann
A
11p15.5
10
Q
Gen de Beckwith Wiedemann
A
Gen inhibidor de kinasa dep. De cíclica 1C (CDKN1C) y IGF2
11
Q
Dx de Beckwith Wiedemann
A
PCR, MS, MLPA