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[Fragile X Syndrome: case report in two brothers]
A M Modesto1, M de F Aguiar, H Barbosa
1Hospital de Base do Distrito Federal, Brasília, DF.
Objective:
To alert the pediatricians about the phenotype of the patients with Fragile X Syndrome, because of it's high incidence and the variable degrees of incapacity that may occur.
Methods:
Case report of two brothers with the classical findings of the Fragile X Syndrome (mental retardation, "Dumbo-like" ears, macroorchidism, among others), confirmed by cytogenetic studies.
Results:
The diagnosis of the syndrome is based on the presence of a variable number of cells with fragile sites on the X chromosome at Xq 27.3. The DNA analysis revealed Fragile X locus in 14% of the brothers' metaphases and in 1% of the mother's. It was also observed that two cousins on the mother's side had the syndrome, confirmed by genetic studies.
Conclusions:
The recognition of this syndrome by the pediatrician is of extreme importance to an early multidisciplinary approach.