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.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
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.
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.
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.
Screening for fragile X syndrome: a model for genetic disorders?
'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.
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.
As the majority of patients with Fragile X Syndrome also display autism-like symptoms, the findings offer hope for treating both conditions.
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.
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.
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.
Speech and language development and intervention in Down syndrome and fragile X syndrome.
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