Fragile

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Fragile X Syndrome

Fragile X Syndrome (pronunciation: fraj-uh l eks sin-drohm) is a genetic disorder that causes intellectual disability, behavioral and learning challenges, and various physical characteristics.

Etymology

The term "Fragile X" is derived from the appearance of the X chromosome under a microscope. A segment of the chromosome appears "fragile" or broken, hence the name.

Definition

Fragile X Syndrome is the most common inherited form of intellectual disability and is caused by a mutation in the FMR1 gene on the X chromosome. This mutation prevents the gene from producing enough of a protein that is necessary for brain development.

Symptoms

Symptoms of Fragile X Syndrome can range from mild to severe and can include intellectual disability, anxiety, hyperactivity, and physical features such as a long face, large ears, and flat feet.

Related Terms

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