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.