Two unbalanced translocations involving a common 6p25 region in two XY female patients

We report two 46,XY female patients with two different de novo unbalanced t ranslocations, each involving the chromosomal region 6p25. The patient with a 46,XY,der(6)t(X;6)(p21.2;p25) karyotype had a sex reversal phenotype. Th e patient with a 46,XY,der(13)t(6;13)(p25;q33) karyotype had a male pseudoh ermaphrodite phenotype. Multi-paint fluorescent in situ hybridization was p erformed to determine the origin of the derivative material on 6p and 13q. The association of abnormalities of the 6p25 region with either an Xp dupli cation ora 13q deletion is reported here for the first time.