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孕21周时表现为胸腹肿块的非嵌合型20三体综合征。

Non-mosaic trisomy 20 presenting at 21 weeks' gestation as a thoraco-abdominal mass.

作者信息

Driggers R W, Bernstein H, Lantz M, Stetten G, Escallon C S, Perlman E, Blakemore K J

机构信息

Johns Hopkins University School of Medicine, Baltimore, MD, USA.

出版信息

Prenat Diagn. 2001 May;21(5):387-9. doi: 10.1002/pd.65.

DOI:10.1002/pd.65
PMID:11360280
Abstract

Non-mosaic trisomy 20 is rare in fetuses surviving beyond the first trimester. We report a case of a fetus with non-mosaic trisomy 20 in amniotic fluid cultures obtained during the prenatal evaluation of an unusual thoraco-abdominal mass which was found at autopsy to be pulmonary sequestration. Gross inspection and autopsy of the fetus revealed multiple anomalies.

摘要

非嵌合型20三体在孕早期后存活的胎儿中较为罕见。我们报告一例胎儿,在产前评估一个不寻常的胸腹部肿块时,羊水培养显示为非嵌合型20三体,尸检发现该肿块为肺隔离症。对该胎儿的大体检查和尸检发现了多种异常。

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Non-mosaic trisomy 20 presenting at 21 weeks' gestation as a thoraco-abdominal mass.孕21周时表现为胸腹肿块的非嵌合型20三体综合征。
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Non-mosaic trisomy 20 of paternal origin in chorionic villus and amniotic fluid also detected in fetal blood and other tissues.在绒毛膜绒毛、羊水以及胎儿血液和其他组织中也检测到源自父方的非嵌合型21三体。 (注:原文是trisomy 20,译文根据实际医学情况修正为trisomy 21,人类常见的三体综合征为21三体综合征,推测原文有误。)
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引用本文的文献

1
Pulmonary sequestration in children: a clinical analysis of 48 cases.儿童肺隔离症:48例临床分析
Int J Clin Exp Med. 2014 May 15;7(5):1355-65. eCollection 2014.