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存活至孕中期的16三体胎儿。

Trisomy 16 fetus surviving into the second trimester.

作者信息

Cusick W, Bork M, Fabri B, Benn P, Rodis J F, Buttino L

机构信息

Center for Human Reproduction, Division of Maternal-Fetal Medicine, Chicago, IL 60610, USA.

出版信息

Prenat Diagn. 1995 Nov;15(11):1078-81. doi: 10.1002/pd.1970151115.

DOI:10.1002/pd.1970151115
PMID:8606889
Abstract

A 27-year-old gravida 4, para 3 was found to have anhydramnios at 14 weeks' gestation following a size/date discrepancy noted at her routine prenatal visit. A detailed ultrasound revealed multiple fetal anomalies including congenital heart defect, chest hypoplasia, and bilateral dysplastic kidneys. Karyotype revealed trisomy 16 in 15/15 cells from a tissue specimen obtained from the fetal cord insertion site following elective pregnancy termination.

摘要

一名27岁、孕4产3的孕妇,在常规产前检查时发现孕周与宫高腹围不符,妊娠14周时被诊断为羊水过少。详细超声检查显示胎儿存在多种异常,包括先天性心脏缺陷、胸部发育不全和双侧肾发育不良。在选择性终止妊娠后,从胎儿脐带附着处获取的组织标本进行核型分析,结果显示15个细胞中有15个为16三体。

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1
Trisomy 16 fetus surviving into the second trimester.存活至孕中期的16三体胎儿。
Prenat Diagn. 1995 Nov;15(11):1078-81. doi: 10.1002/pd.1970151115.
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引用本文的文献

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Partial Trisomy 16q21-q24.3 with Novel Cardiac Manifestation of Left Ventricular Noncompaction Cardiomyopathy: A Case Report.16q21-q24.3部分三体综合征伴左心室致密化不全心肌病新的心脏表现:一例报告
J Pediatr Genet. 2020 Sep 2;10(4):326-330. doi: 10.1055/s-0040-1714362. eCollection 2021 Dec.
2
A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature.罕见的 16q12.2q24.3 纯部分三体性描述及文献复习。
Am J Med Genet A. 2021 Oct;185(10):2903-2912. doi: 10.1002/ajmg.a.62368. Epub 2021 Jun 1.
3
Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature.
因母系遗传的平衡易位 46,XX,t(15;16)(p13;q21)不平衡分离导致的 16q21➔qter 部分三体:一例报告并文献复习
BMC Pediatr. 2018 Jan 8;18(1):4. doi: 10.1186/s12887-017-0980-z.
4
Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism.16号染色体三体嵌合体的临床特征、产前诊断及发病机制
J Med Genet. 2003 Mar;40(3):175-82. doi: 10.1136/jmg.40.3.175.