Description

Introduction: The Fragile X syndrome (FXS) is the most frequent cause of hereditary mental retardation. It is an X-linked mental disturbance, with a complex inherited pattern and larger prevalence in men. The suspicion of the syndrome begins in individuals that display the following signs: typical faces (long face with prominent jaw), macro-orchidism and disorder in the psychomotor development, characteristics that are not always recognized by relatives or health professionals. For the diagnosis, molecular tests (PCR, Southern Blot or methylation-specific PCR) or cytogenetic study for detection of the fragile X site are performed.

Material and Methods: In order to analyze the importance of the use of phenotypes indices in patients with suspicion of the FXS, assisted in a public service of genetics, a case/control study was carried out with 10 individuals: five (5) carriers of the X Fragile syndrome and equal number of patients in which the suspicion was not confirmed. These individuals were re-evaluated using four phenotypes indices.

Results: The obtained scores indicate that three of the four indices selected showed a good correlation with the diagnostic of FXS . It is concluded that the phenotypes observation with the application of indexes, especially the Hagerman´s (1991), constitutes an important measurement for screening of possible cases of Fragile X syndrome. © 2008 Syllaba Press & MACOS Research Group. All rights Reserver.