Communication for the Heartland Regional Genetics Group


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Communication for the Heartland Regional Genetics Group <[log in to unmask]>
Mon, 25 Jun 2007 12:38:24 -0500
Communication for the Heartland Regional Genetics Group <[log in to unmask]>
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"Troxell, Robin M." <[log in to unmask]>
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Groups - I apologize, I used incorrect nomenclature in my previous request.  THe karyotype should read as follows: 45,X[9]/46,X,+r[11].  Thanks and sorry for the misinformation.


From: Troxell, Robin M.
Sent: Mon 25-Jun-07 11:23 AM
To: [log in to unmask]; HEARTLAND
Subject: help finding records

Good morning everyone -
I am need of some assistance in obtaining medical records on a patient.  Essentially I had a hysterical mother call me this morning after she obtained a copy of her two year old son's karyotype: ABNORMAL FEMALE 45,X(9)/46,X,+r(11).  The story is that she was seen at Keesler AFB during her pregnancy, amnio done for abnormal triple screen that showed an abnormality, she did remember the term ring but thought it was a Y, and then he was born at Baptist East hospital in Memphis.  He was examined there, he had two testes, and no further testing was done.  Mom said he has basically been small and sickly all of his life, was in the hospital a few weeks ago and she requested another karyotype, and because she works at the hospital she got it this morning from medical records and of course nobody to explain it to her.  Now he has an abdominal mass, someone mentioned ovaries and she is panicked.  A while back she had called Keesler trying to get a copy of his amnio and said the person she talked to said something about Katrina and it wasn't possible to get it.  Mom and dad possibly had chromosomes done in 2001 at Keesler due to multiple SABs.  So..... since I can't get the NSGC find a counselor to work could someone let me know if you work at either Keesler or Baptist East in Memphis, and what the best number to fax releases to at either location would be.  I also told mom that someone from the order hospital needed to call US Labs, who did the most recent karyotype, and ask them to futher characterize the ring.  I think this could get overlooked b/c it was ordered by the attending and I'm sure there is no continuity of care for that.  Working on finding a pediatrician!!
Robin M. Troxell, MS, CGC
Genetic Counselor
University of Missouri Department of Child Health
Mercy St. John's Hospital (Springfield, MO)
(p) 417-820-9839
(f) 417-820-3720
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