What is Fragile X Syndrome?

Fragile X syndrome (FXS) is the most common form of hereditary mental retardation. FXS is an X-linked dominant genetic disorder with features that vary from person to person with FXS.

Both males and females can be affected with FXS; however, because the gene is on the X-chromosome, more males are affected than females. As many as 1 in 4000 males and 1 in 8000 females have this syndrome. In the general population, approximately 1 in 300 women are carry the fragile X premutation, the form of the gene that can change to the full mutation when passed from mother to child. The full mutation can lead to FXS.

You can help by participating in our studies

We are recruiting individuals in families with fragile x syndrome for three ongoing research projects.

The Emory Study of Adult Learning - For males and females from 18 to 50 years of age

POF - Emory Study of Premature Ovarian Failure - For females 18-75 years of age

The Emory Study of Learning and Movement - For males and females above the age of 50

FMR1 Resequencing - for males with typical fragile X symptoms but a negative fragile X test

Scientific articles on Fragile X Syndrome

Learning and Behavior

POF (Premature Ovarian Failure)

Learning and Movement

New search of "fragile X syndrome" on Scientific database

New search regarding fragile X research at Emory University

Resources for Families and Professionals

• The National Fragile X Foundation: The NFXF has patient friendly information that can be obtained from their website at www.fragilex.org or by calling (800)688-8765. The organization hosts a yearly international conference for families and professionals. This year the conference will be in Washington, DC, June 23-27, 2004.
  


• Fragile X Association of GA: The parent led association can provide informational support and guidance for newly diagnosed families in the area. For more information call (404)712-8232 or e-mail parent sources frax@bellsouth.net
  


• Specialty Clinic - The Department of Human Genetics has plans to establish a Fragile X Syndrome Center in the Fall of 2004 that will incorporate research, education, and clinical services. For more information call (404)712-8232.
  


• Genetic Fact Sheets