fragile X syndrome


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fragile X syndrome

n.
An inherited disorder caused by a defective gene on the X chromosome and marked by intellectual disability, developmental disorders, enlarged testes, and facial abnormalities in males and by mild or no effects in heterozygous females.

fragile X syndrome


n.
a widespread form of mental retardation caused by a faulty gene on the X chromosome.
[1980–85]
References in periodicals archive ?
The aim of this publication is to report a family affected by fragile X syndrome and contribute to the Colombian epidemiology of this syndrome.
Fragile X syndrome is the most common inherited form of intellectual disability and autism, with a prevalence of 1 in 3,600 to 4,000 males and 1 in 4,000 to 6,000 females in the U.
ABC-FXS addresses some of the main symptoms of Fragile X syndrome which include social avoidance, temper tantrums, hyperactivity and repetitive movements.
Fragile X Syndrome is the most common known driver of inherited learning disabilities.
To spread awareness about Fragile X syndrome (FXS) and promote effective medical treatment of the condition, Mrs.
The drug suppresses the activity of the protein mGluR5, thought to play a role in altering brain cell structure in patients with fragile X syndrome (SN: 6/2/12, p.
The report provides a snapshot of the global therapeutic landscape of Fragile X Syndrome
This study proposes a potential therapeutic approach for treating brain disorders associated with dysregulated expression of the Dscam protein, which is seen in both Down syndrome and Fragile X syndrome," said senior study author Bing Ye, whose lab is in the LSI.
Naumann A, Hochstein N, Weber S, Fanning E, Doerfler W A distinct DNA-methylation boundary in the 5'-upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome.
In fragile X syndrome, regional synapse communication is severely limited, giving rise to certain cognitive and behavioral problems.
Fragile X syndrome (FXS) [8] (OMIM 300624), the most common heritable cause of mental retardation and the second most frequent cause of mental retardation after Down syndrome, affects approximately 1 in 4000 males and 1 in 6000 females (1, 2).
According to the source Rush University Medical Center, children and adults with social withdrawal due to Fragile X syndrome, the most common cause of inherited intellectual disability and the most common known single gene cause of autism, may soon benefit from an experimental drug under study by pediatric neurologists at Rush Children's Hospital at Rush University Medical Center