X Fragile Syndrome; diagnosis in Primary Care

The Fragile X Syndrome (FXS) is the most frequent cause of hereditary mental deficiency. Its clinical manifestations are numerous since different organic systems are affected, being characteristic the phenotype and the serious cognitive and behavioural malfunctions that they show. Although the phenotype is well known, it is necessary to confirm the diagnosis by means of molecular study of the gene FMR. Clinical suspicion from Primary Care is very important and it is necessary to extend the molecular study to the rest of the family, since we can detect more affected subjects or carriers with many possibilities of having affected siblings; therefore genetic advice to the family is also fundamental. We are presenting the clinical cases of two families with several members affected by the syndrome and others being carriers of the premutation. The diagnosis of one of them was entirely carried out in the Primary Care Centre, due to the refusal of the parents to be studied in the Hospital.