fragile X syndrome

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fragile X syndrome

[‚fraj·əl ′eks ‚sin‚drōm]

(medicine)

A hereditary condition resulting from a trinucleotide repeat at an inherited fragile site on the long arm of the X chromosome. Affected males usually have some characteristic facial features, enlarged testes, and mental retardation. Females with on fragile X chromosome and one normal X chromosome may have a lesser degree of mental retardation.

References in periodicals archive ?

Among distinguishing behaviours of Fragile X syndrome were cited: delayed echolalia; repetitive speech; hand flapping; gaze aversion; good understanding of facial expression; and a general level of ability of theory of mind.

Understanding social developmental disorders

These results highlight the different predictive value of clinical diagnosis in these two diseases in the three subgroups studied, much higher for myotonic dystrophy and not so good for fragile X syndrome. The former disease is often referred to the neurologist, specially the most affected cases, and the signs and symptoms are highly suggestive of the correct diagnosis, when a good quality electromyography and physical test is performed.

Disabilities caused by unstable mutations in Costa Rica

The FRAXA Research Foundation was founded to support scientific research aimed at finding a treatment and a cure for fragile X syndrome. With Nobel Prize winning scientists, Dr.

Something's not quite right

Screening for fragile X syndrome: a model for genetic disorders?

Delayed diagnosis of Fragile X syndrome

'Children with Fragile X syndrome exhibit a number of developmental and behavioral symptoms including anxiety, social avoidance, hyperactivity, and socially unresponsive behaviors that significantly impact the family, and the child's capacity to interact with them, their peers, and care providers.

Zynerba Pharmaceuticals Announces Publication of Zygel 12-week Open Label Fragile X Syndrome Data in the Journal of Neurodevelopmental Disorders

Predictive testing for cognitive functioning in female carriers of the fragile X syndrome using hair root analysis.

Screening for CGG repeat expansion in the FMR1 gene by melting curve analysis of combined 5' and 3' direct triplet-primed PCRs

Fragile X syndrome is a neurodevelopmental disorder characterized by impaired social function, cognition and speech, as well as attention deficits and anxiety.

New clinical trial to examine medication for treatment of social withdrawal in fragile X and autism patients

As the majority of patients with Fragile X Syndrome also display autism-like symptoms, the findings offer hope for treating both conditions.

Mutations in single gene can cause Fragile X Syndrome, autism

The genetics of fragile X syndrome is complex, resulting from large expansions of a trinucleotide (3 base-pair) repeat within the FMRl gene on the X chromosome.

Premature ovarian failure

The National Institutes of Health has developed a research plan to advance the understanding of fragile X syndrome and its associated conditions, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.

NIH Issues Research Plan on Fragile X Syndrome and Associated Disorders

Although it is autism that continues to grab the lion's share of the headlines, fragile X syndrome remains the most common cause of inherited cognitive deficit.

Fragile X syndrome: awareness coming of age

Speech and language development and intervention in Down syndrome and fragile X syndrome.

Speech and language development and intervention in Down syndrome and fragile X syndrome