Screening for fra(x) mutation and Klinefelter syndrome in mental institutions

A total of 9153 male subjects in mental institutions from six different Italian districts were screened for the presence of bilateral microorchidism, in order to detect Klinefelter syndrome. Among the 212 microorchidic patients found, 33 had an XXY karyotype (15.5%). Ninety-one Klinefelter patients with normal intelligence were also examined as a control group. Cytogenetical and clinical findings were compared in these two groups of patients and no difference was found. Two fra(x)positive subjects were found, one for each group of XXY patients; the influence of fra(x) mutation on their phenotype is discussed.