• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

雅各布森综合征合并肖恩综合征：一例报告

Jacobsen syndrome associated with Shone's complex: a case report.

作者信息

Brum Andressa, Laskoski Larissa Valéria, Matos Fabiana Gonçalves de Oliveira Azevedo, d'Arce Luciana Paula Grégio

机构信息

Universidade Estadual do Oeste do Paraná, Cascavel, PR, Brazil.

出版信息

Rev Paul Pediatr. 2025 Jan 17;43:e2024136. doi: 10.1590/1984-0462/2025/43/2024136. eCollection 2025.

DOI:10.1590/1984-0462/2025/43/2024136
PMID:39841699
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11741228/
Abstract

OBJECTIVE

The aim of this study was to report the case of a child with Jacobsen syndrome in order to provide phenotypic information about this rare genetic disorder.

CASE DESCRIPTION

A 5-year-old female preschooler was diagnosed with Jacobsen syndrome by karyotype testing. She presented with a variety of craniofacial anomalies and malformations, including cardiac impairment, characterized by a cluster of malformations in the left ventricle in line with the diagnosis of Shone's complex.

COMMENTS

Jacobsen syndrome occurs due to a deletion of contiguous genes on the long arm of chromosome 11 (11q). The main characteristics associated with this genetic disorder are short stature and delayed neuropsychomotor development, trigonocephaly and craniofacial dysmorphism, hematological alterations, and cardiac malformations, among others. Thus, the child is being monitored at a Craniofacial Anomalies Center with a multi-professional team in order to monitor her development and treat the associated comorbidities.

摘要

目的

本研究旨在报告一例雅各布森综合征患儿的病例，以提供有关这种罕见遗传疾病的表型信息。

病例描述

一名5岁女性学龄前儿童通过核型检测被诊断为雅各布森综合征。她出现了多种颅面异常和畸形，包括心脏损害，其特征是左心室存在一系列畸形，符合肖恩综合征的诊断。

评论

雅各布森综合征是由于11号染色体长臂（11q）上的连续基因缺失所致。与这种遗传疾病相关的主要特征包括身材矮小和神经心理运动发育迟缓、三角头畸形和颅面畸形、血液学改变以及心脏畸形等。因此，该患儿正在颅面异常中心由一个多专业团队进行监测，以监测她的发育情况并治疗相关的合并症。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d780/11741228/897a01b2ced3/1984-0462-rpp-43-e2024136-gf02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d780/11741228/19c8bb980c9f/1984-0462-rpp-43-e2024136-gf01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d780/11741228/897a01b2ced3/1984-0462-rpp-43-e2024136-gf02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d780/11741228/19c8bb980c9f/1984-0462-rpp-43-e2024136-gf01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d780/11741228/897a01b2ced3/1984-0462-rpp-43-e2024136-gf02.jpg

相似文献

1
Jacobsen syndrome associated with Shone's complex: a case report.雅各布森综合征合并肖恩综合征：一例报告
Rev Paul Pediatr. 2025 Jan 17;43:e2024136. doi: 10.1590/1984-0462/2025/43/2024136. eCollection 2025.
2
A Case Report: Jacobsen Syndrome Complicated by Paris-Trousseau Syndrome and Shone's Complex.病例报告：合并巴黎-特鲁索综合征和肖恩综合征的雅各布森综合征
J Pediatr Hematol Oncol. 2015 Oct;37(7):e429-32. doi: 10.1097/MPH.0000000000000372.
3
Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome.一名具有雅各布森综合征临床特征患者的11号染色体间质缺失的分子特征分析。
Am J Med Genet A. 2006 Apr 1;140(7):704-8. doi: 10.1002/ajmg.a.31146.
4
Prenatal diagnosis of Jacobsen syndrome associated with a distal 11q deletion and a distal 8q duplication by chromosome microarray analysis in a fetus with a de novo unbalanced translocation of 46,XX,der(11)t(8;11)(q24.13;q23.3) and multiple congenital anomalies on fetal ultrasound.通过染色体微阵列分析对胎儿进行产前诊断，该胎儿患有新发的不平衡易位 46,XX,der(11)t(8;11)(q24.13;q23.3)，伴有多发先天性异常，发现存在 Jacobsen 综合征相关的 11q 远端缺失和 8q 远端重复。
Taiwan J Obstet Gynecol. 2024 Nov;63(6):922-926. doi: 10.1016/j.tjog.2024.09.012.
5
Chromoanasynthesis as a cause of Jacobsen syndrome.染色质合成障碍导致雅各布森综合征。
Am J Med Genet A. 2020 Nov;182(11):2533-2539. doi: 10.1002/ajmg.a.61824. Epub 2020 Aug 25.
6
Molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle, hypoplastic left heart syndrome and ductus venosus agenesis on prenatal ultrasound.产前超声检查发现与右心室双出口、左心发育不全综合征及静脉导管缺如相关的胎儿雅各布森综合征（11q23.3-q25缺失）的分子细胞遗传学特征。
Taiwan J Obstet Gynecol. 2017 Feb;56(1):102-105. doi: 10.1016/j.tjog.2016.12.004.
7
Jacobsen syndrome without thrombocytopenia: a case report and review of the literature.无血小板减少症的雅各布森综合征：一例病例报告及文献综述
Turk J Pediatr. 2013 Mar-Apr;55(2):203-6.
8
Hypoimmunoglobulinemia and protein C deficiency in a girl with Jacobsen syndrome: a case report.一名患有雅各布森综合征女孩的低免疫球蛋白血症和蛋白C缺乏症：病例报告
J Med Assoc Thai. 2013 Jul;96(7):870-3.
9
Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor.一名患有ETS1转录因子新生移码突变的患者出现部分雅各布森综合征表型。
Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3). doi: 10.1101/mcs.a004010. Print 2019 Jun.
10
Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q.雅各布森综合征中自闭症谱系障碍的证据：在远端 11q 中鉴定候选基因。
Genet Med. 2015 Feb;17(2):143-8. doi: 10.1038/gim.2014.86. Epub 2014 Jul 24.

本文引用的文献

1
Ultrasonographic findings and prenatal diagnosis of Jacobsen syndrome: A case report and review of the literature.雅各布森综合征的超声检查结果及产前诊断：一例病例报告并文献复习
Medicine (Baltimore). 2020 Jan;99(1):e18695. doi: 10.1097/MD.0000000000018695.
2
Jacobsen syndrome: Advances in our knowledge of phenotype and genotype.雅各布森综合征：我们对表型和基因型认识的进展
Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):239-50. doi: 10.1002/ajmg.c.31448. Epub 2015 Aug 18.
3
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice.
ETS-1 缺失导致雅各布森综合征关键区域的基因缺失，导致小鼠出现室间隔缺损和心室形态异常。
Hum Mol Genet. 2010 Feb 15;19(4):648-56. doi: 10.1093/hmg/ddp532. Epub 2009 Nov 26.
4
Jacobsen syndrome.雅各布森综合征
Orphanet J Rare Dis. 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9.
5
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome).染色体微阵列图谱显示，BSX和神经颗粒素在11q末端缺失障碍（雅各布森综合征）的神经认知和行为缺陷中起作用。
Neurogenetics. 2009 Apr;10(2):89-95. doi: 10.1007/s10048-008-0157-x. Epub 2008 Oct 15.
6
Endocrine abnormalities in patients with Jacobsen (11q-) syndrome.雅各布森（11q-）综合征患者的内分泌异常。
Am J Med Genet A. 2004 Aug 15;129A(1):62-3. doi: 10.1002/ajmg.a.30248.
7
The 11q terminal deletion disorder: a prospective study of 110 cases.11q末端缺失障碍：110例前瞻性研究
Am J Med Genet A. 2004 Aug 15;129A(1):51-61. doi: 10.1002/ajmg.a.30090.
8
Paris-Trousseau syndrome : clinical, hematological, molecular data of ten new cases.巴黎-特鲁索综合征：10例新病例的临床、血液学及分子数据
Thromb Haemost. 2003 Nov;90(5):893-7. doi: 10.1160/TH03-02-0120.
9
Paris-Trousseau syndrome platelets in a child with Jacobsen's syndrome.患有雅各布森综合征儿童的巴黎-特鲁索综合征血小板
Am J Hematol. 2001 Apr;66(4):295-9. doi: 10.1002/ajh.1061.
10
Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with thrombocytopenia.Fli-1是小鼠血管和巨核细胞发育所必需的，并且在血小板减少症患者中半合子缺失。
Immunity. 2000 Aug;13(2):167-77. doi: 10.1016/s1074-7613(00)00017-0.