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Fragile X syndrome 🧬
For education and revision only. Check current NICE/BNF, specialist guidance and local NHS policy before clinical use. Newly added V19 material has not received independent clinical sign-off.
Fragile X syndrome is caused by a full CGG-repeat expansion in FMR1 and is an important inherited cause of intellectual disability.
Presentation
- Language and developmental delay, intellectual disability of variable severity, autistic traits, anxiety and hypermobility; phenotype may be subtle in young children.
- Family history may include premature ovarian insufficiency or late-onset tremor/ataxia in FMR1 premutation carriers.
Diagnosis and support
- Request appropriately targeted FMR1 repeat testing via clinical genetics; routine chromosomal microarray does not replace repeat-expansion testing.
- Provide speech, educational, behavioural and family support with genetic counselling about inheritance.
UK sources / further reading: NHS Genomic Test Directory
| The content on this website is provided for educational and informational purposes only to support exam preparation (e.g., MLA, MRCP, USMLE) and learning. This is NOT medical advice, diagnosis, treatment, or professional guidance. It does not replace consultation with a qualified healthcare professional, official guidelines (e.g., NICE, GMC, BNF), or supervised clinical practice. Always verify information with current, authoritative sources. Makindo and its contributors accept no liability for any reliance on this content, including errors, omissions, or any resulting harm, loss, or consequences. By using this site, you agree to these terms. |
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