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Mary Sheridan Centre for Child Health, 5 Dugard Way off Renfrew Road, Kennington, London SE11 4TH, UK; vbkelly@gmail.com
Great Ormond Street Hospital NHS Trust/UCL Institute of Child Health, London, UK
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You diagnose a 5-year-old boy with autistic spectrum disorder. His examination is unremarkable and there is no family history of learning difficulties. Should you perform a molecular genetic screen for fragile X?
In boys with a diagnosis of autism [population] and no family history of learning disability [negative test result] what is the risk of fragile X syndrome [outcome]?
Searches were carried out using "Autism", "Autistic spectrum disorder" combined with "FRAX" and "fragile X".
PubMed: the search was limited to 1991–2008, as molecular genetic testing was routinely used to
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