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.
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.