Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Fertil Steril. 2011 Nov;96(5):1160-4. doi: 10.1016/j.fertnstert.2011.07.1114.
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.
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.
报告一例夫妇反复流产，其男性伴侣新发的 4 个断裂点的异常复杂染色体易位（CCR）。
病例报告和文献复习。
私人医院的遗传实验室。
一对因反复流产而就诊的夫妇。
细胞遗传学和精子荧光原位杂交（FISH）技术。
核型和 FISH 精子结果。
夫妇表型正常，无流产或不育家族史。女性核型正常。男性核型和随后的 FISH 分析显示新发的 4 个断裂点的 CCR：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+）。
罕见的新发、具有反复流产史的异常复杂 CCR 男性携带者。CCR 患者实现正常妊娠的选择有限。在对 CCR 夫妇进行咨询时，应谨慎考虑和评估。
