FRAGILE X (X FRA) SYNDROME: THE USEFULNESS OF A CLINICAL SCORE IN PATIENT SELECTION

X Fra is the second cause of mental retardation (M.R.) after Down's Syndrome, representing 50% of the X-linked cases. The X-Fra phenotype has been described and common features are being defined in multicentric programs. We studied 46 children presenting 4 or more of the signs in a score: 1)Family history suggestive of X-linked pathology; 2) Height and cephalic circunference on P50 or more; 3)Large ears; 4)Prominent ears; 5)Long face; 6)High palate; 7)Calluses on the dorsal aspect of hands; 8)Joint hiperlaxity; 9) Depressed sternum; 10)Mitral prolapse; 11)Macroorchidism; 12)Poor visual contact; 13)Hiperactivity; 14)Stereotypes behavior; 15)Self-agression; 16)Disorders language development; 17)Variable degrees of M.R. We assign one point for each item. Twelve children, aged 3 to 14 years resulted X-Fra+ in lymphocyte cultures with added Fudr (50 cells analyzed). Negative X-patients showed less than seven signs of the score, whereas twelve or more signs were found in X-Fra+ children. Each patient was evaluated by geneticist, a neurologist and a neuropsychologist. The future aims of this program are: A) To identify X-Fra+ cases in a population of M.R. children without known etiology. B) To select through the score those patients to be evaluated cytogenetically. C) To provide genetic counselling to mothers and female relatives at risk.