A de novo complex chromosome rearrangement involving three chromosomes (2, 13, and 18) in an oligospermic male.

OBJECTIVE To determine an unusual complex chromosome rearrangement found in a man with oligospermia with a normal phenotype. DESIGN Case report with a review of the literature. SETTING Academic research environment. PATIENT(S) A man with oligospermia but otherwise apparently healthy. INTERVENTION(S) Peripheral blood lymphocytes were used for karyotyping, and metaphases were analyzed by the fluorescence in situ hybridization (FISH) procedure. Further characterization of the karyotype was done by using multicolor banding (MCB) probes. MAIN OUTCOME MEASURE(S) Physical examination, semen analysis, GTG banding, FISH, MCB. RESULT(S) The semen analysis revealed oligospermia. The lymphocytic karyotype detected an unusual complex chromosome rearrangement involving chromosomes 2, 13, and 18 determined by banding cytogenetics. Karyotype was established as 46,XY,t(2;13;18)ins(2;13)(2qter-->2p25.1::13q13-->13q22::18q12.3-->18qter;13pter-->13q13::2p25-->2pter;18pter-->18q12.3::13q22-->13qter) after MCB analysis. CONCLUSION(S) The association of an unusual complex chromosome rearrangement with three recurrent spontaneous abortions was reported.