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单绒毛膜双羊膜囊双胎胎盘合并贝-维综合征的局限性胎盘间充质发育异常

Localized Placental Mesenchymal Dysplasia in Monochorionic Diamniotic Twin Placenta with Beckwith-Wiedemann Syndrome.

作者信息

Eren Karanis Meryem Ilkay, Zamani Ayse Gül

机构信息

Konya Education and Research Hospital, Pathology, University of Health Science, Konya, Turkey.

Medical Genetics, Necmettin Erbakan University Meram Medical Faculty Hospital, Konya, Turkey.

出版信息

Fetal Pediatr Pathol. 2022 Aug;41(4):657-664. doi: 10.1080/15513815.2020.1865492. Epub 2020 Dec 27.

Abstract

Placental mesenchymal dysplasia (PMD) is often associated with Beckwith-Wiedemann syndrome. A 27-year-old woman with preeclampsia prematurely delivered twin girls. One side of the placenta was larger with numerous grape-like vesicles, histologically with large, cystic, stem villi with cisterns without syncytiotrophoblastic hyperplasia. This side showed mosaicism for chromosome 11 by FISH and hypomethylation at ICR2 by MLPA. The smaller side of the placenta was normal macroscopically, microscopically, and karyotypically. There was symmetric growth restriction, macroglossia and hypoglycemia of the girl corresponding to the abnormal placental side, and lesser symmetric growth restriction and mild hypoglycemia in the other girl. Localized placental mesenchymal dysplasia can occur in monochorionic diamniotic twin placenta with Beckwith-Wiedemann syndrome. Fetal affects may be asymmetric. PMD can be associated with mosaicism monosomy of chromosome 11.

摘要

胎盘间充质发育异常(PMD)常与贝克威思-维德曼综合征相关。一名患有先兆子痫的27岁女性早产了一对双胞胎女孩。胎盘的一侧较大,有许多葡萄样水泡,组织学上可见大的、囊性的、有池的主干绒毛,无间合胞体滋养层增生。通过荧光原位杂交(FISH)检测,这一侧显示11号染色体嵌合,通过多重连接依赖探针扩增(MLPA)检测,在印记控制区2(ICR2)存在低甲基化。胎盘较小的一侧在宏观、微观和核型上均正常。与异常胎盘侧对应的女孩出现了对称性生长受限、巨舌症和低血糖,另一个女孩则有较轻的对称性生长受限和轻度低血糖。局限性胎盘间充质发育异常可发生于伴有贝克威思-维德曼综合征的单绒毛膜双羊膜囊双胎胎盘中。胎儿影响可能不对称。PMD可与11号染色体嵌合单体相关。

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