Prader Willi syndrome Flashcards
(6 cards)
1
Q
Mnemonic
: H3O
A
Hyperphagia, Hypotonia, Hypopigmentation
Obesity
++ cognitive impairment ; undescended testicles (infertile )
2
Q
Etiology
:
A
Deletion of Paternal Gene copy in chromosome 15 with
maternal gene methylation(CH3 group) [Silencing ] – Genomic
imprinting
3
Q
Most common complication
A
Sleep Apnea
4
Q
which syndrome caused by expansion of trinucleotides
A
fragile x syndrome
5
Q
which syndrome caused by point mutation
A
di-george syndrome
6
Q
which abnormality caused by multifocal inheritance
A
NTD
