'This case series describes four males who presented with learning and behavioural difficulties. In each case, the diagnosis of fiagile X syndrome was delayed because of an initial false-negative cytogenetic result. Although most children are currently investigited 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.Although routine karyoryping should still be performed when investigating children with learning difficulties, fragile X syndrome is now usually tested for using new molecular techniques looking for a C
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