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

Abstract

Objective: To report a de novo exceptional complex chromosomal rearrangement (CCR) with four breakpoints in the male partner of a couple with recurrent abortions.

Design: Case report and review of the literature.

Setting: Genetics laboratory in a private hospital.

Patient(s): A couple referred for recurrent abortions.

Intervention(s): Cytogenetic and sperm fluorescence in situ hybridization (FISH) techniques.

Main outcome measure(s): Karyotype and FISH sperm results.

Result(s): 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+).

Conclusion(s): 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.