[Effectiveness of a clinical test in the preselection of children with suspected fragile X syndrome].

BACKGROUND Fragile X syndrome (FXS) is the most frequent hereditary cause of mental retardation. It can be diagnosed by molecular genetic techniques, but clinical suspicion is made less likely by it variable expression. OBJECTIVE To assess the effectiveness of a six-item checklist in the preselection of children who are candidates for FXS genetic study… CONTINUE READING