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Genetic counseling: Dysmorphic Features - Hypotonia

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Dysmorphic Features - Hypotonia


  • Call Cytolab and see if FISH for Prader-Wili was ever ordered for client.



  • What are your concerns? I know that when we talked you mentioned the difficulty in feeding that he experienced before. Is there anything else?
  • I've read your chart and looked over the information you told me over the phone, but pretend I don't know anything and tell me why you are here today.
  • Review family history
  • Review medical history
  • Physical exam
  • Answer any questions/ order any tests

Review family historyEdit

Review medical historyEdit

  • Mom, how long were you in the hospital following birth?
  • Was the client "floppy" at birth?
  • Can you describe the floppiness and when it began to improve
  • What doctors does the client see?
    • Neurology…how often and last visit?
    • Pediatrician
  • Is the client on any medications?
  • Has the client ever had PT, ST, OT?
  • Has the client ever been involved in an Early Intervention program?

Physical examEdit

Explain what findings mean/what tests will be orderedEdit

Describe what we think may be going onEdit

  • Any genetic conditions (prader-wili)
  • multifactorial inheritance
  • sporadic events

Wrap up sessionEdit

  • Answer any questions mom might have
  • Set up method of returning results to mom
  • Set up follow-up appointment?
  • Get referrals per instructions from Dr.


The information in this outline was last updated in 2000.

This material has been imported fom the wikibook "Genetic counseling"[] under the GNU Free Documentation License.

Heckert GNU white Permission is granted to copy, distribute and/or modify this document under the terms of the GNU Free Documentation License, Version 1.2 or any later version published by the Free Software Foundation; with no Invariant Sections, no Front-Cover Texts, and no Back-Cover Texts. A copy of the license is included in the section entitled "GNU Free Documentation License."

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