反复妊娠流产时的地心单轴三倍体:病例报告和文献综述。

Caitlin Raymond, Song Han, Gengming Huang, Cecilia Clement, Harshwardhan Thaker, Jianli Dong
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引用次数: 0

摘要

三倍体是一种遗传现象,即染色体数目为 3n = 69,父母一方对胎儿的染色体贡献为双倍(2n)。此类妊娠通常无法存活,估计约占公认受孕的 1%,占公认流产的 10%。大多数观点认为,三倍体导致的胎儿死亡是由于父方染色体存在 2 个拷贝。在本研究中,我们介绍了一名 32 岁的 G7P1051 在妊娠约 13 周时发生的二联单体三倍体流产,其中胎儿体内存在 2 个母体染色体拷贝。非极性胎盘组织学、染色体微阵列和短串联重复检测证实了这一不寻常现象,并对后两者进行了详细讨论。此外,本研究还讨论了复发性流产、复发性三倍体以及患者的长期临床随访。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Digynic monoandric triploidy in the setting of recurrent pregnancy loss: a case report and literature review.

Triploidy is a genetic occurrence in which the chromosome count is 3n = 69 with a double (2n) chromosomal contribution to the conceptus from one parent. Such pregnancies are usually nonviable and are estimated to account for approximately 1% of recognized conceptions and 10% of recognized miscarriages. Majority opinion is that fetal losses due to triploidies are caused by the presence of 2 copies of paternal chromosomes. In this study, we present a digynic monoandric triploid miscarriage from a 32-year-old G7P1051 at approximately 13 weeks gestation, in which 2 copies of the maternal chromosomes are present in the fetus. This unusual phenomenon is supported by nonmolar placental histology, chromosomal microarray, and short tandem repeat assays, with the latter 2 being discussed in detail. Furthermore, this study includes discussion of recurrent miscarriage, recurrent triploidy, and long-term clinical follow-up of the patient.

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