12 Facts About Fragile X

Fragile X syndrome is a genetic disorder characterized by mild-to-moderate intellectual disability.

Fragile X syndrome co-occurs with autism in many cases and is a suspected genetic cause of the autism in these cases.

Children with fragile X have very short attention spans, are hyperactive, and show hypersensitivity to visual, auditory, tactile, and olfactory stimuli.

Fragile X-associated primary ovarian insufficiency is one of three Fragile X-associated Disorders caused by changes in the FMR1 gene.

Fragile X syndrome is a genetic disorder which occurs as a result of a mutation of the Fragile X Messenger Ribonucleoprotein 1 gene on the X chromosome, most commonly an increase in the number of CGG trinucleotide repeats in the 5' untranslated region of FMR1.

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Individuals with fragile X syndrome have a full mutation of the FMR1 allele, with over 200 CGG repeats.

Subset of people with intellectual disability and symptoms resembling fragile X syndrome are found to have point mutations in FMR1.

Fragile X syndrome has traditionally been considered an X-linked dominant condition with variable expressivity and possibly reduced penetrance.

Cytogenetic analysis for fragile X syndrome was first available in the late 1970s when diagnosis of the syndrome and carrier status could be determined by culturing cells in a folate deficient medium and then assessing for "fragile sites" on the long arm of the X chromosome.

The fragile X abnormality is directly determined by analysis of the number of CGG repeats using polymerase chain reaction and methylation status using Southern blot analysis.

However, the use of stimulants in the fragile X population is associated with a greater frequency of adverse events including increased anxiety, irritability and mood lability.

Fragile X syndrome is the most "translated" human neurodevelopmental disorder under study.