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Because men have only one copy of the X chromosome, males with sufficient trinucleotide expansion are symptomatic, while females have two X chromosomes and thus double the chance of a working allele (unless parents are related). Aside from mental retardation, the most obvious indicators include physical differences and behaviors commonly associated with autism. Of the former, the most readily visible are an elongated face and large or protruding ears, but others are also frequently present. Of the latter, behavioral stereotypy and atypical social development are the most frequently observed.
While there is no current cure for the syndrome, there is hope that further understanding of the FMR1 gene would allow to counteract the underlying genetic cause. Currently, the syndrome can be treated through behavioral therapy , special education, and when necessary, treatment of physical abnormalities. Persons with Fragile X in their family histories are advised to seek genetic counselingA genetic counselor is health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Most enter the field from a variety of disciplines, including biology, genetics, nursing, psychology, public heal to assess the likelihood of having children who are affected, and how severe any impairments may be in affected descendants.