Fragile X syndrome presents behavioral problems (e.g. autism spectrum disorder is present in 50%-70%). Affected males may have height and head circumference in higher percentiles, as well as characteristic craniofacial features and medical problems, including hypotonia, gastroesophageal reflux, strabismus, seizures, sleep disorders, joint laxity, flat feet, scoliosis, and recurrent otitis media.
Fragile X syndrome: 1 / 2,400-6,000 (ORPHA:908).
Service is recommended to rule out Fragile X syndrome since >99% of affected individuals have an expansion in the 5′ UTR region of CGG trinucleotides (more than 200 repeats), detectable by this service.
The benefits derived from a genetic diagnosis are aimed at diagnostic closure and family genetic counseling.
Service is indicated when considering the diagnosis of fragile X syndrome when evaluating a patient with anthropometric data of overgrowth associated with intellectual disability and other characteristic signs.
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Ref. S-202008723
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
Fragile X syndrome
