Prader-Willi Vignette

Question 1

Undescended testes is called _______, medically.

Answer 1

cryptorchidism

Question 2

______ and _______ are common ophthalmologic problems for patients with PWS.

Answer 2

Strabismus (lazy eye); nystagmus (repetitive refocusing)

Question 3

____ is used to treat obesity and short stature in people with PWS.

Answer 3

Growth hormone

Question 4

______ is one of the techniques used to identify deletions in the SNRP region.

Answer 4

FISH

Question 5

_______ is a contraindication of growth hormone treatment.

Answer 5

Obstructive sleep apnea

Question 6

Autism and seizures often result from _____.

Answer 6

maternal IDIC 15 or duplicated maternal 15q

Question 7

__ percent come from paternal microdeletion (i.e., deletion of the PWS region) and __ percent come from maternal disomy.

Answer 7

70; 25