Prader-Willi Flashcards
Prader-Willi Syndrome results when genetic information is missing from the _______ allele of 15q11-q13.
paternal
What is a respiratory problem in PWS pts?
Obstructive sleep apnea
What is the phenotype of maternally derived interstitial 15q duplications?
Autism, NOT dysmorphic, seizures, hypotonia
How is Angleman Syndrome detected?
FISH, UPD of 15q, or imprinting errors of 15q detected with methylation studies
What is used to treat Prader-Willi?
growth hormone
How is Prader-Willi diagnosed?
FISH or microarray
Name 3 abnormalities found associated with chromosome 15.
1) marker chromosomes- inverted duplication 2) interstitial duplications 3) deletions
Why is autism associated with PWS?
gamma-aminobutyric acid type-A is an important neurotransmitter in the CNS and its gene is also on chromosome 15.
What is the newborn presentation of Prader-Willi?
hypotonia, dysmorphic features, undescended testicle.
What are some developmental issues in PWS?
mild to moderate cognitive disability; behavioral issues
What is interstitial duplication?
a piece of chromosome is copied resulting in duplication or partial trisomy
____ results when genetic information is missing from the paternal allele of 15q11-q13.
Prader-Willi Syndrome
How are the maternal and paternal alleles told apart?
Differences in methylation patterns
Angleman Syndrome phenotype?
mildly dysmorphic facial features which evolve with age, hypotonia in infancy progressing to spasticity in older patients, Intellectual Disability (ID), seizures, autism
What happens to Prader-Willi patients around age 2?
Failure to thrive reverses- develop hyperphagia and gain wait
