[Fragile X Syndrome: case report in two brothers].
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.
Modesto
A M
AM
Hospital de Base do Distrito Federal, Brasília, DF.
Aguiar
M de F
Mde F
Barbosa
H
H
Vilela
S S
SS
Santos
M
M
Ferrari
I
I
Klotz
M
M