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

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2
Q

Angelman

A

MAn - maternally active
Deletions of maternally active cs 15
or paternal UPD 15

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3
Q

C/S 11 syndromes

A

Beckwith-Wiedemann syndrome
11p15.5 & patUPD11

Russell-Silver syndrome (dwarf)
11p15.5 and matUPD7 (then maternal imprinting)

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