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本文引用的文献

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Elevated Gastric Antrum Erosions in Portal Hypertension Patients: Peptic Disease or Mucosal Congestion?
Korean J Gastroenterol. 2017 May 25;69(5):278-282. doi: 10.4166/kjg.2017.69.5.278.
2
Patients with Gastric Antral Vascular Ectasia (GAVE) Are at a Higher Risk of Gastrointestinal Bleeding in the Absence of Cirrhosis.胃底贲门血管曲张(GAVE)患者即使没有肝硬化也有更高的胃肠道出血风险。
J Clin Transl Hepatol. 2015 Dec 28;3(4):254-9. doi: 10.14218/JCTH.2015.00031. Epub 2015 Dec 15.
3
Portal hypertensive gastropathy and gastric antral vascular ectasia.门脉高压性胃病和胃窦血管扩张症
Indian J Gastroenterol. 2015 Sep;34(5):351-8. doi: 10.1007/s12664-015-0605-0. Epub 2015 Nov 13.
4
Histoplasmosis laryngeal: report first case in Colombia.喉组织胞浆菌病:哥伦比亚首例病例报告。
Colomb Med (Cali). 2014 Dec 30;45(4):186-9. eCollection 2014 Oct-Dec.
5
Pure trisomy 2p syndrome in two siblings with an unbalanced translocation and minimal terminal 12q monosomy characterized by high-density microarray.两例患有不平衡易位和最小限度12号染色体长臂末端单体型的同胞中的纯2号染色体短臂三体综合征,通过高密度微阵列进行特征分析。
Cytogenet Genome Res. 2014;142(4):249-54. doi: 10.1159/000362141. Epub 2014 Apr 15.
6
Partial trisomy 2p24-->pter and monosomy 18q22.1- qter resulting from parental translocation.因亲代易位导致的2号染色体短臂2区4带至末端部分三体及18号染色体长臂2区2带1亚带到末端单体。
Genet Couns. 2013;24(2):179-84.
7
Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangement.源自父源性2号染色体臂间2q插入至2p及臂内倒位的2p部分三体和2q部分单体:一种四断点重排的分子细胞遗传学特征
Cytogenet Genome Res. 2013;140(1):12-20. doi: 10.1159/000350868. Epub 2013 May 4.
8
Isolated laryngeal lymphangioma: a rarity.孤立性喉淋巴管瘤:一种罕见病。
Indian J Otolaryngol Head Neck Surg. 2011 Jul;63(Suppl 1):90-2. doi: 10.1007/s12070-011-0210-1. Epub 2011 Apr 11.
9
Esophageal vascular ectasia.
Endoscopy. 2011;43 Suppl 2 UCTN:E281. doi: 10.1055/s-0030-1256427. Epub 2011 Sep 13.
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4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome.4q34.1-q35.2 缺失的男孩表型类似于 22q11.2 缺失综合征。
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一名患有血管扩张症的两个月大儿童:一例经分子核型分析诊断的病例报告

A Two-Month-Old Child with Vascular Ectasia: A Case Report Diagnosed by Molecular Karyotyping.

作者信息

Kendir Ozlem Tolu, Yilmaz Hayri Levent, Bozdogan Sevcan, Bisgin Atıl, Celik Tugçe, Surmelioglu Ozgur, Doran Figen

机构信息

Department of Pediatrics, Çukurova Üniversity, Balcali Hospital, Adana, Turkey.

AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Cukurova University, Adana, Turkey.

出版信息

J Pediatr Genet. 2019 Mar;8(1):20-23. doi: 10.1055/s-0038-1669385. Epub 2018 Aug 22.

DOI:10.1055/s-0038-1669385
PMID:30775049
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6375715/
Abstract

Gastrointestinal angiodysplasia can be encountered in cases with aortic stenosis, inflammatory gastrointestinal conditions, von Willebrand disease or vascular damage, and degenerative changes. Predisposing factors have been described in four adults with vascular ectasia located in the stomach, duodenum, and the distal esophagus. Here, we report a 2-month-old infant with vascular ectasia in the proximal esophagus and diagnosed by molecular karyotyping. This is the first case of vascular ectasia in the proximal esophagus in a pediatric patient.

摘要

胃肠道血管发育异常可见于主动脉瓣狭窄、胃肠道炎症性疾病、血管性血友病或血管损伤以及退行性改变的病例中。已有文献描述了4例胃、十二指肠和食管远端存在血管扩张的成人患者的易感因素。在此,我们报告1例2个月大的婴儿,其食管近端存在血管扩张,并通过分子核型分析得以诊断。这是首例儿科患者食管近端血管扩张的病例。