Luo Yan, Lu Hezhen, Zhang Yanshang, Cui Zhiqiang, Zhang Pingping, Li Yali
Department of Reproductive genetics, Hebei General Hospital, No. 348 Heping West Road, Xinhua District, Shijiazhuang, 050051, Hebei, China.
Department of Obstetrics, Hebei General Hospital, Shijiazhuang, 050051, Hebei, China.
Mol Cytogenet. 2022 Aug 21;15(1):37. doi: 10.1186/s13039-022-00615-z.
Complex chromosomal rearrangements (CCR) are rare chromosomal structural abnormalities. The chromosomal structural variants in CCR carriers are one of the factors contributing to a history of adverse pregnancy and childbirth. In this study, we report a patient with a history of adverse pregnancy and childbirth who exhibited complex balanced chromosomal translocations. The female patient was phenotypically and intellectually normal; in her first pregnancy, the embryo was damaged, and a histological examination of the chromosomes of the embryos revealed a deletion of approximately 4.66 Mb at 1p32.3p32.2, a duplication of approximately 1.02 Mb at 1p22.2p22.1, a duplication of approximately 1.46 Mb at 6q27 and a deletion of approximately 7.78 Mb at 9p24.3p24.1. Chromosomal examinations of the patient revealed the karyotype to be 46,XX,(1;9)(p32; p34). In the second pregnancy, the foetus was diagnosed prenatally with three or more positive ultrasound soft indicators. The patient's karyotype was re-examined and further confirmed by fluorescence in situ hybridisation as 46,XX,t(1;9;6)(p31;p22;q27), revealing this patient was a carrier of complex balanced chromosomal translocations. Carriers of CCR have a higher risk of spontaneous abortion, and genetic counselling clinicians should consider the karyotype analyses of such patients in clinical practice and recheck their chromosomes if necessary.
复杂染色体重排（CCR）是罕见的染色体结构异常。CCR携带者的染色体结构变异是导致不良妊娠和分娩史的因素之一。在本研究中，我们报告了一名有不良妊娠和分娩史的患者，其表现出复杂的平衡染色体易位。该女性患者表型和智力正常；在她的第一次妊娠中，胚胎受损，对胚胎染色体进行组织学检查发现1p32.3p32.2处有大约4.66 Mb的缺失、1p22.2p22.1处有大约1.02 Mb的重复、6q27处有大约1.46 Mb的重复以及9p24.3p24.1处有大约7.78 Mb的缺失。对该患者的染色体检查显示其核型为46,XX,(1;9)(p32; p34)。在第二次妊娠中，胎儿在产前被诊断出有三个或更多的阳性超声软指标。对患者的核型进行了重新检查，并通过荧光原位杂交进一步确认为46,XX,t(1;9;6)(p31;p22;q27)，表明该患者是复杂平衡染色体易位的携带者。CCR携带者有更高的自然流产风险，遗传咨询临床医生在临床实践中应考虑对此类患者进行核型分析，并在必要时重新检查他们的染色体。
