Welcome to the MeCP2 Duplication Syndrome Blog

Welcome to to the MeCP2 Duplication Syndrome Blog.  This blog is inteneded to share information of ineterst to  families affected by MeCP2 Duplication syndrome. The information shared on this site should not be considered medical advice.It is important to remember that each individual who has MeCP2 duplication is unique. What works well for one, may not work for others. Therefore, it s essential to consult with your family members physician  before applying medical interventions discussed on this blog.

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2 responses to “Welcome to the MeCP2 Duplication Syndrome Blog

  1. My 9 year old DAUGHTER suffers from a delayed maturation. After performing a complete genetic examination, and screening of Rett syndrome, has been diagnosed with a doubling of about 438 kilobases discontinuous in the Xq28 chromosomal region, which affects 13 different genes among most notably with the MeCP2 gene overexpressed it (disorder exclusively of boys), so it is a special case in Spain. At the moment there is no treatment for this problem. Need more info and how to contact a Research Institute where to study this problem. Thanks in advance.

    • Hello Manuel,
      MeCP2 Duplication syndrome does mostly affect boys but it does affect some girls. Most girls who have the duplication are “healthy carriers” meaning that they do not have symptoms but have a 50% chance of passing it on to any children they have. This is because most girls seem to be able to compensate by selective inactivation of the chromosome with the extra MeCP2 gene. If they cannot, they may be affected in a manner similar to boys. These girls are rare but there are some. If your daughter has symptoms similar to those described in MECP2 boys, she is probably one of these. If her symptoms are quite different, it is possible her symptoms are the result of another cause and coincidental to her extra genes. Some of the best specialists in this condition can be found on the other MeCP2 Duplication site at

      http://www.mecp2duplication.com/pb/wp_dcd6a807/wp_dcd6a807.html

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