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Kaplan Qbank USMLE



Author6 Posts
  #1

Patient, young, with obesity, hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, strabismus, and small hands and feet. What disease and what is tx?

  #2

Prader Willy
Paternal genomic imprinting. Del(15)(q11q13)

  #3

sounds like prader willi syndrome.........exhibits genomic imprinting...deletion on paternal(father) chromosome 15.

treatment i got to check :oops:

  #4

I also think Pradi willi

  #5

Prader Willi Syndrome. Treat with GH.

  #6

PW patients also have MASSIVE polyphagia. They'll eat anything in sight (I worked with them) such that you have to put locks on cupboards, pantries, the fridge/freezer. Even though they are mentally retarded, they will still figure out how to get past the locks from time to time.

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