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Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology.Silver-Russell综合征和Beckwith-Wiedemann综合征：具有异质性分子病因的相反表型。
Mol Syndromol. 2016 Jul;7(3):110-21. doi: 10.1159/000447413. Epub 2016 Jul 6.
2
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.一种用于分子诊断Silver-Russell综合征和Beckwith-Wiedemann综合征潜在的显性和临界性11p15.5缺陷的多方法途径。
Clin Epigenetics. 2016 Mar 1;8:23. doi: 10.1186/s13148-016-0183-8. eCollection 2016.
3
Fetal growth patterns in Beckwith-Wiedemann syndrome.贝克威思-维德曼综合征的胎儿生长模式。
Clin Genet. 2016 Jul;90(1):21-7. doi: 10.1111/cge.12759. Epub 2016 Mar 15.
4
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.贝克威思-维德曼综合征中的（表观）基因型-表型相关性
Eur J Hum Genet. 2016 Feb;24(2):183-90. doi: 10.1038/ejhg.2015.88. Epub 2015 Apr 22.
5
Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects.对 1000 个样本进行 Beckwith-Wiedemann 综合征的甲基化分析和诊断。
Clin Epigenetics. 2014 Jun 4;6(1):11. doi: 10.1186/1868-7083-6-11. eCollection 2014.
6
Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance.贝克威思-威德曼综合征：根据分子机制的生长模式和肿瘤风险，以及肿瘤监测指南。
Horm Res Paediatr. 2013;80(6):457-65. doi: 10.1159/000355544. Epub 2013 Dec 4.
7
Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology.贝康威氏症候群的表观遗传学分析：与辅助生殖技术的关系。
Clin Epigenetics. 2013 Dec 10;5(1):23. doi: 10.1186/1868-7083-5-23.
8
Prevalence of Beckwith-Wiedemann syndrome in North West of Italy.意大利西北部的 Beckwith-Wiedemann 综合征患病率。
Am J Med Genet A. 2013 Oct;161A(10):2481-6. doi: 10.1002/ajmg.a.36080. Epub 2013 Aug 5.
9
DNA methylation studies on imprinted loci in a male monozygotic twin pair discordant for Beckwith-Wiedemann syndrome.对 Beckwith-Wiedemann 综合征不一致的男性同卵双胞胎中印记基因座的 DNA 甲基化研究。
Clin Genet. 2011 Jun;79(6):546-53. doi: 10.1111/j.1399-0004.2010.01482.x.
10
Etiology of esophageal atresia and tracheoesophageal fistula: "mind the gap".食管闭锁及食管气管瘘的病因：“注意间隙”
Curr Gastroenterol Rep. 2010 Jun;12(3):215-22. doi: 10.1007/s11894-010-0108-1.

自然受孕的单卵双胎新生儿中一例患食管闭锁和贝克威思-维德曼综合征：首例报告

Esophageal atresia and Beckwith-Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report.

作者信息

Serra Gregorio, Antona Vincenzo, Schierz Mandy, Vecchio Davide, Piro Ettore, Corsello Giovanni

机构信息

Mother and Child Department University of Palermo Palermo Italy.

出版信息

Clin Case Rep. 2018 Jan 13;6(2):399-401. doi: 10.1002/ccr3.1103. eCollection 2018 Feb.

DOI:10.1002/ccr3.1103
PMID:29445485
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5799623/
Abstract

Recent studies report a high incidence of monozygotic twinning in Beckwith-Wiedemann syndrome. A phenotypical discordance in monozygotic twins is rare. Twinning and Beckwith-Wiedemann syndrome show higher incidence in children born after assisted reproductive techniques. We report on the first observation of esophageal atresia and Beckwith-Wiedemann syndrome in one of the naturally conceived discordant monozygotic twins.

摘要

最近的研究报告称，贝克威思-维德曼综合征中同卵双胞胎的发生率很高。同卵双胞胎出现表型不一致的情况很少见。双胞胎和贝克威思-维德曼综合征在辅助生殖技术后出生的儿童中发生率更高。我们报告了首例自然受孕的不一致性同卵双胞胎之一患有食管闭锁和贝克威思-维德曼综合征的观察结果。