prader-willi syndrome

Question 1

caused by

Answer 1

loss of functional genes on proximal arm of chr 15 inherited from father

can be due to deletetion of this portion of chromosome
or
when both copies Chr 15 are inherited from mum

Question 2

features

Answer 2

constant insatiable hunger
poor muscle tone as infant - hypertonia 
LD
hypogonadism 
fair, soft skin prone to bruising 
MH problems 
dysmorphic features
narrow forehead
almond eyes
thin upper lip 
downturned mouth

Question 3

Mx

Answer 3

locking food away

growth hormone

Question 4

why growth hormone as Mx

Answer 4

aim to improve muscle development and body composition