Genetic Imprinting Disorders

Question 1

Prader Willi Syndrome - Associated Genes

Answer 1

Paternal genes chromosome 15

Question 2

Prader-Wili Syndrome - Mechanism

Answer 2

del(15q-q13) on paternal chromosome
maternal uniparental disomy (methylation)
imprinting error –> virtual maternal uniparental disomy (methylation)

Question 3

Prader-Willi Syndrome - Infant Clinical Presentation

Answer 3

floppy
undescended testicles
severe feeding problems

Question 4

Prader-Willi Syndrome - Toddler clinical presentation

Answer 4

voracious eating
intellectual disabilities
obesity
strabismus (lazy eye)
nysagmus (jiggly eye)
short

Question 5

Angelman Syndrome - Associated gene

Answer 5

Maternal gene chromosome 15

Question 6

Angelman Syndrome - Mechanism

Answer 6

del(15q-q13) on maternal chromosome
paternal uniparental disomy (methylation)
imprinting error –> virtual paternal uniparental disomy (methylation

UBE3A mutation (specific mutation test)

Question 7

Angelman Syndrome - Clinical Presentation

Answer 7

Dysmorphic facial features
hypotonia
intellectual disability
seizures
short