Small favour...
Can the next person heading up to Louisville to see Dr M do me a very quick favour and ask if a FISH test done on 7q11.3 rather than 7q11.23 would still show a diagnosis of WS?
Im sure its correct but wouldnt hurt to ask...
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9 comments:
You could email her?!?!
Amy
I would try to email or call her. I don't have her numbers here at work but I know she would help you out. Hopefully someone can get you her email/phone number real quick.
Email her. cbmervis@louisville.edu. She will answer you right away. She is on email until 10:00pm EST sometimes. Also, her phone number is 502-852-5946. She answers email faster than voice mail.
Let me know how it goes
If you don't get an answer I go to see her next week on the 16th. I'll ask in person!!
Noel
some people have been complaining lately about Dr. M not getting back to their emails. But, yeah definitely try. Tell her about your plight. She is super nice. Be sure to put (suspected WS) In the subject line. maybe even send a picture of Jaiden along.
Thanks for the address Penny :)
Ok. i have E-mailed her, unfortunatly it was before Heather's comment, otherwise i would have sent a photo along too (good idea). i didnt go into much detail really, just said that he had been tested with a negative result and i noticed the 7q11.3 thing and would this make a difference or not, and thanks for her time.
now, fingers crossed she gets back to me!
16th Noel? thats my Lachies 2nd Birthday, good luck! i will be thinking of you :)
You may also want to contact Dr. Morris. She's actually the geneticist who works with Dr. Mervis. She does all the research on the blood samples we give.
Her contact info is:
Dr Morris research coordinator now is Marisol - here is her contact info
Marisol Gregorio
Research Coordinator
UNSOM-Department of Pediatrics/Genetics
2040 W. Charleston Blvd. #401
Las Vegas, NV 89102
702-671-2224 Telephone
702-385-7719 FAX
gregorio@unr.edu
I hope you get some answers.
Katie,
Don't know if this helps or answers any questinos for you, but I just pulled out Keith's FISH test and it reads,
"Result: Deletion of the Williams Syndrome (Elastin Gene) Region
(7q11.23) detected."
Thanks guys :)
I have E-mailed both parties and will hope for a reply!
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