Welcome to the Maryland Fragile X

Resource Group

The Maryland Fragile X Resource Group is a community of families in and around the Washington-Baltimore metro area that have children affected by Fragile X Syndrome.  We are a very active group providing mutual support and education, promoting awareness of Fragile X and actively participating in funding research on Fragile X.  The group was founded in August of 1999 and currently supports 80 families.  We welcome all who share this common interest and hope that you find the information presented on this site beneficial.

What is Fragile X?

Fragile X Syndrome is now recognized as the leading hereditary cause of developmental and learning disabilities. Approximately 1/400 individuals in the general population are believed to carry the gene for the condition. Males are usually more severely affected than females.

While most boys have mental retardation, one-half to two-thirds of girls have normal IQ or learning disabilities. Emotional and behavioral problems are common in both sexes.

Fragile X is one of the most common inherited diseases. It affects all races and ethnic groups. 80-90% of people with Fragile X are not yet correctly diagnosed.

In 1991, scientists discovered the gene (called FMR1) that causes Fragile X. In individuals with Fragile X Syndrome, a defect in FMR1 (a full mutation) shuts the gene down. Like a defective factory, the FMR1 gene cannot manufacture the protein that it normally makes.

Some individuals are non-affected-carriers: they have a small defect in the FMR1 gene (called a premutation) but do not show symptoms of Fragile X.

Fragile X is inherited. Carrier men (transmitting males) pass the premutation to all their daughters but none of their sons. Each child of a carrier woman has a 50% chance of inheriting the gene. The fragile X premutation can be passed silently down through generations in a family before a child is affected by the syndrome. A DNA blood test identifies both carriers and affected individuals. While the exact prevalence of Fragile X is unknown, recent studies indicate that 1 in 2000 boys and 1 in 4000 girls are estimated to be affected with Fragile X Syndrome.

Contacting Us

Kristen Head, President (khead@mdfragilex.org)

Kathy Seering, Secretary (jseering@mdfragilex.org)

Al Blount, Treasurer (ablount@mdfragilex.org)

This site was last updated on December 28, 2007