Chromosome 2 fragility- 48, XXYY syndrome

We report a case of double male syndrome, a type of Klinefelter syndrome with 48, XXYY chromosome. The case had been referred to our department because of severe mental retardation and behavioural and psychiatric problems. In the karyotype analysis, the chromosome constitution of that 16–year–old case was revealed as 48, XXYY, fra 2q (32.2–32.3). More than 70 patients with 48, XXYY chromosome constitution have been reported. The 48, XXYY syndrome was firstly called Klinefelter syndrome (1), then it was delineated by Borgaonkar et al. (1). Chromosomal fragility and other breakages are not generally considered part of the clinical spectrum. In order to confirm these characteristics, we report a boy with 48, XXYY chromosomal complement and chromosome 2 fragility.