Prader-Willi/Angelman Syndrome Flashcards
1
Q
What is the phenotype for Prader-Willi syndrome?
A
- Hyperphagia
- Diabetes
- Hypotonia
- Obesity
- Increase behavioral problems/sleep abnormalities
- Delayed development
2
Q
Which chromosome is involved in Prader-Willi?
A
Chromosome 15
3
Q
What is the prognosis for Prader-willi?
A
- Affects males more than females -Hyperphagia
- Diabetes
- Hypotonia
- Obesity
- Increase behavioral problems/sleep abnormalities
- Delayed development
4
Q
What is an imprinting disorder?
A
Group of congenital diseases characterized by overlapping clinical features affecting:
- growth
- metabolism
- molecular disturbances
5
Q
What are the three explanations for how Prader-Willi syndrome occurs?
A
- deletion of paternal chromosome 15
- inactivation of paternal chromosome 15
- maternal uniparental disomy of chromosome 15
6
Q
What is uniparental disomy?
A
It is when the active genes on a chromosome are only from one parent (maternal or paternal)
7
Q
If prader-willi develops as a result of UPD, are there two copies of the maternal or paternal chromosome?
A
Maternal
8
Q
What ultrasound findings may be associated with prader-willi?
A
- polyhydramnios
- growth restriction
- immobile flexed limbs and clenched hands
- fetal malpresentation
