Prader-Willi syndrome Flashcards
1
Q
If prader-willi syndrome is inherited from the mother rather than the father, what is this referred to as?
A
Prader-Willi syndrome if gene deleted from father
Angelman syndrome if gene deleted from mother
2
Q
On what chromosome is the genetic abnormality in this condition
A
long arm of chromosome 15
3
Q
Cause of genetic abnormality in Prader-Willi
A
microdeletion of paternal 15q11-13 (70% of cases)
maternal uniparental disomy of chromosome 15
4
Q
Clinical features
A
hypotonia during infancy
dysmorphic features
short stature
hypogonadism and infertility
learning difficulties
childhood obesity
behavioural problems in adolescence
5
Q
A
