Prader-Willi Flashcards Preview

M2M Unit II > Prader-Willi > Flashcards

Flashcards in Prader-Willi Deck (23):
1

Prader-Willi Syndrome results when genetic information is missing from the _______ allele of 15q11-q13.

paternal

1

What is a respiratory problem in PWS pts?

Obstructive sleep apnea

1

What is the phenotype of maternally derived interstitial 15q duplications?

Autism, NOT dysmorphic, seizures, hypotonia

2

How is Angleman Syndrome detected?

FISH, UPD of 15q, or imprinting errors of 15q detected with methylation studies

3

What is used to treat Prader-Willi?

growth hormone

4

How is Prader-Willi diagnosed?

FISH or microarray

4

Name 3 abnormalities found associated with chromosome 15.

1) marker chromosomes- inverted duplication 2) interstitial duplications 3) deletions

5

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.

6

What is the newborn presentation of Prader-Willi?

hypotonia, dysmorphic features, undescended testicle.

7

What are some developmental issues in PWS?

mild to moderate cognitive disability; behavioral issues

8

What is interstitial duplication?

a piece of chromosome is copied resulting in duplication or partial trisomy

9

____ results when genetic information is missing from the paternal allele of 15q11-q13.

Prader-Willi Syndrome

11

How are the maternal and paternal alleles told apart?

Differences in methylation patterns

11

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

13

What happens to Prader-Willi patients around age 2?

Failure to thrive reverses- develop hyperphagia and gain wait

15

What are the ophthalmologic problems in Prader-Willi?

strabismus and nystagmus

16

Prader-Willi Syndrome results when genetic information is missing from the paternal allele of ______.

15q11-q13

17

The interstitial duplication of 15q does not have a phenotype if it is inherited from the _____.

father

18

The interstitial duplication of 15q does not have a _____if it is inherited from the father.

phenotype

19

The _____ of 15q does not have a phenotype if it is inherited from the father.

interstitial duplication

21

Angleman Syndrome etiology?

15q deletion in PWS/AS region from maternal allele

22

What is an ortho problem commonly seen in PWS pts?

scoliosis

23

strabismus

crossed eyes or a lazy eye