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- W2015959248 abstract "This case series describes four males who presented with learning and behavioural difficulties. In each case, the diagnosis of fragile X syndrome was delayed because of an initial false-negative cytogenetic result. Although most children are currently investigated for fragile X syndrome using highly sensitive and specific molecular techniques, there still remain a large number of older children who have been tested using only cytogenetic analysis. The clinical presentation of these four children and the reason for the occurrence of the false-negative results are considered. In addition, there is a discussion and illustration of how a screening checklist can be used to help clinicians to decide which children should be retested." @default.
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- W2015959248 date "2008-11-12" @default.
- W2015959248 modified "2023-10-18" @default.
- W2015959248 title "Retesting for fragile X syndrome in cytogenetically normal males" @default.
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- W2015959248 doi "https://doi.org/10.1111/j.1469-8749.1998.tb15358.x" @default.
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