Genetics Flashcards
1
Q
Prader Willi syndrome
A
C/S 15 - Maternal imprinting
So mutations in fathers c/s 15
(or maternal UPD15)
PrA - paternally active
2
Q
Angelman
A
MAn - maternally active
Deletions of maternally active cs 15
or paternal UPD 15
3
Q
C/S 11 syndromes
A
Beckwith-Wiedemann syndrome
11p15.5 & patUPD11
Russell-Silver syndrome (dwarf)
11p15.5 and matUPD7 (then maternal imprinting)