fragile X syndrome


Also found in: Medical, Acronyms, Encyclopedia, Wikipedia.

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 ?
AMO Pharma also plans to initiate a clinical program in fragile X syndrome with a second product candidate, AMO-01.
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.
In fragile X syndrome, regional synapse communication is severely limited, giving rise to certain cognitive and behavioral problems.
Predictive testing for cognitive functioning in female carriers of the fragile X syndrome using hair root analysis.
Fragile X syndrome is a neurodevelopmental disorder characterized by impaired social function, cognition and speech, as well as attention deficits and anxiety.
Most physicians are aware that Fragile X syndrome is one of the more common causes of male mental retardation but likely don't expect to encounter it in a practice comprising primarily adults with normal intelligence.
At the 2010 ACMG meeting, a presentation revealed that the carrier frequency for Fragile X syndrome is one in 236 women in the general U.
High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome.
The cells came from embryos donated by couples with a family history of fragile X syndrome who visited an Israeli in vitro fertilization (IVF) clinic.
Police are investigating whether Alison Davies and her 12-year-old son Ryan died by jumping off the 100ft high Humber Bridge together as their family revealed that Ryan suffered from fragile X syndrome, a hereditary condition that causes mental impairment.
The two boys, George, eight, and Sid, seven, both suffer from Fragile X syndrome a disability similar in some respects to autism and attend Ysgoly Bont in Llangefni.
If the underlying condition or syndrome is not detected, then testing for prometaphase chromosomes and fragile X syndrome, as well as a brain MRI, should be done.