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患有16三体嵌合体的宫内生长受限胎儿。

Intrauterine growth retardation fetus with trisomy 16 mosaicism.

作者信息

Chareonsirisuthigul Takol, Worawichawong Suchin, Parinayok Rachanee, Promsonthi Patama, Rerkamnuaychoke Budsaba

机构信息

Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.

Department of Obstetrics and Gynecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.

出版信息

Case Rep Genet. 2014;2014:739513. doi: 10.1155/2014/739513. Epub 2014 May 14.

Abstract

Fetal trisomy 16 is considered uniformly lethal early in gestation. It has been reported to be associated with the variability of clinical features and outcomes. Mosaic trisomy 16 leads to a high risk of abnormality in prenatal cases. Intrauterine growth retardation (IUGR) is a common outcome of mosaic trisomy 16. Herein, we report on the case of Thai male IUGR fetus with trisomy 16 mosaicism. The fetal body was too small. Postmortem investigation of placenta revealed the abnormality including small placenta with furcated cord insertion and single umbilical cord artery. Cytogenetic study demonstrated trisomy 16 that was found 100% in placenta and only 16% in the fetal heart while other organs had normal karyotype. In addition, cardiac and other internal organs examination revealed normal morphology.

摘要

胎儿16三体被认为在妊娠早期具有一致的致死性。据报道,它与临床特征和结局的变异性有关。嵌合型16三体在产前病例中导致异常的高风险。宫内生长受限(IUGR)是嵌合型16三体的常见结局。在此,我们报告一例患有16三体嵌合症的泰国男性IUGR胎儿病例。胎儿身体过小。胎盘的尸检调查显示存在异常,包括胎盘小、脐带插入分叉和单脐动脉。细胞遗传学研究表明,16三体在胎盘中的检出率为100%,而在胎儿心脏中仅为16%,其他器官的核型正常。此外,心脏和其他内部器官检查显示形态正常。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f33/4052622/387018117d88/CRIG2014-739513.001.jpg

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