De novo exceptional complex chromosomal rearrangement in a healthy fertile male: case report and review of the literature

Abstract

To report a de novo exceptional complex chromosomal rearrangement (CCR) with four breakpoints in the male partner of a couple with recurrent abortions. Case report and review of the literature. Genetics laboratory in a private hospital. A couple referred for recurrent abortions. Cytogenetic and sperm fluorescence in situ hybridization (FISH) techniques. Karyotype and FISH sperm results. The couple was phenotypically normal, with no family history of miscarriage or infertility. Female karyotype was normal. Male karyotype followed by FISH analysis showed a de novo CCR with four breakpoints: t(5,13,16)(q11.1, q14.3, q12.2), ins(16;13)(q12.2;q?q14.2). ish t(5;13;16)(wcp5+,wcp13+), ins(16;13)(wcp13+). Exceptional de novo CCR male carriers with recurrent abortions are extremely rare. Patients with CCRs have limited options to achieve a normal pregnancy. Careful consideration and assessment should be provided upon counseling of couples with CCRs.