Request for info from Moms

Monica Coenraads is the Executive Director of the Rett Syndrome Research Trust. She feels that there might be something useful for understanding both Rett Syndrome and MECP2 Duplication Syndrome to be learned from women who carry the MECP2 duplication but do not have symptoms. Typically these would be moms or sisters of boys with MECP2 Duplication syndrome. She is looking for women or girls who have the duplication, are free of symptoms, have been tested for skewing (the selective inactivation of the X chromosomes with the duplication), and have been found to have normal skewing. If you happen to fit this profile, please consider contacting Monica.

My guess is that most mom’s who have been tested and found to carry the duplication have not really been tested for skewing. Please feel free to discuss this request here. However, individuals who comment on this (or on any other blog) are encouraged to consider their own and their family’s privacy interests before including personal information in any discussion.

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4 responses to “Request for info from Moms

  1. I would be totally happy to participate…and be tested for skewing. I actually do not know if I was or not. Will call the geneticist to find out.

  2. Mindy Hegstad

    I would be happy to participate as well. I have not been tested for skewing.

  3. I haven’t been able to a referral from my PCM to get tested or have my daughter tested geneticially. My son has the MECP2 Syndrome. We would like to participate.

  4. Thank you to the moms who have posted. Please email me directly at monica@rsrt.org

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