Stephen J. Schueler, M.D.

Overview Incidence Symptoms Evaluation Treatment Underlying Cause Genetics

Fragile X Syndrome Underlying Cause

A person with fragile X syndrome has a defective gene located on the X chromosome. The defective gene prohibits normal development of the brain. Specifically, the gene that is defective normally codes for the production of a protein called fragile X mental retardation protein or FMRP.

Since females have two x chromosomes (males only have one), females with this disorder have milder symptoms and fewer of the physical features associated with the disorder.

Continue to Fragile X Syndrome Genetics

Last Updated: Mar 18, 2009 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Fragile X Syndrome References
  1. Dolen G, Bear MF. Courting a cure for fragile X. Neuron. 2005 Mar 3;45(5):642-4. [15748838]
  2. Wattendorf DJ, Muenke M. Diagnosis and management of fragile X syndrome. Am Fam Physician. 2005 Jul 1;72(1):111-3. [16035691]
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