Notes in Fragile X Syndrome

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Published	10/08/2024	Fragile X syndrome is caused by a mutation in the {{c1::FMR1 (fragile X mental retardation 1)}} gene on the X chromosome. The FMR1…
Published	10/08/2024	Fragile X is inherited in an {{c1::X-linked}} fashion but can also arise from {{c1::de-novo mutations}}.
Published	10/08/2024	Fragile X: FeaturesFragile X syndrome usually presents with a delay in {{c1::speech and language development}}. Other features are:{{c1::Intellectual}…
Published	10/08/2024	Management of FragileX:Management is supportive and involves treating the symptoms. MDT involvement to support the {{c1::learning disability, man…
Published	10/08/2024	Fragile X is the second most common {{c1::genetic cause of severe learning difficulties after Down syndrome}}
Published	10/08/2024	Fragile X is a genetic condition arising from {{c1::trinucleotide repeat expansion mutations}} on the X chromosome. Therefore {{c1::genetic counseling…
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