Terminal 14q deletion with unbalanced t(Y;14)(q12;q32) translocation

Terminal deletions of chromosome 14q are very rarely reported. Schneider et al. (2008) reviewed about 20 cases of 14q32 region deletion in a previous article and only three of the cases involved autosomal translocations; however, no sex chromosome translocations were reported. Here we report the clinical findings of a patient with terminal 14q32 deletion derivated from at (Y;14)(q12;q32) translocation.