• 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

A Case of Early Onset Scoliosis with Trisomy 1q and Monosomy 21q.

作者信息

Fukase Yuta, Watanabe Kota, Takeda Kazuki, Okubo Toshiki, Suzuki Satoshi, Tsuji Osahiko, Nagoshi Narihito, Yagi Mitsuru, Nakamura Masaya

机构信息

Department of Orthopedic Surgery, Keio University School of Medicine, Tokyo, Japan.

Department of Orthopedic Surgery, International University of Health and Welfare School of Medicine, Chiba, Japan.

出版信息

Spine Surg Relat Res. 2024 Aug 6;8(6):654-658. doi: 10.22603/ssrr.2024-0099. eCollection 2024 Nov 27.

DOI:10.22603/ssrr.2024-0099
PMID:39659376
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11625721/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be70/11625721/d0923aacc7e2/2432-261X-8-0654-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be70/11625721/00ead1f11ba7/2432-261X-8-0654-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be70/11625721/e838c16ca712/2432-261X-8-0654-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be70/11625721/d0923aacc7e2/2432-261X-8-0654-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be70/11625721/00ead1f11ba7/2432-261X-8-0654-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be70/11625721/e838c16ca712/2432-261X-8-0654-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be70/11625721/d0923aacc7e2/2432-261X-8-0654-g003.jpg

相似文献

1
A Case of Early Onset Scoliosis with Trisomy 1q and Monosomy 21q.一例伴有1q三体和21q单体的早发性脊柱侧弯病例。
Spine Surg Relat Res. 2024 Aug 6;8(6):654-658. doi: 10.22603/ssrr.2024-0099. eCollection 2024 Nov 27.
2
Three children with partial trisomy 1q and partial monosomy 3p.三名患有1q部分三体性和3p部分单体性的儿童。
J Med Genet. 1986 Oct;23(5):466-7. doi: 10.1136/jmg.23.5.466.
3
Prenatal diagnosis of partial trisomy 1q and monosomy X in a fetus with a congenital lung lesion and hydrops fetalis.一名患有先天性肺部病变和胎儿水肿的胎儿的1q部分三体和X单体的产前诊断。
Am J Med Genet A. 2007 May 15;143A(10):1104-7. doi: 10.1002/ajmg.a.31707.
4
Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients.通过 FISH 和 array-CGH 在三个相关患者中检测到亚端粒 6.7Mb10p 三体和 5.6Mb21q 单体。
Am J Med Genet A. 2012 Apr;158A(4):869-76. doi: 10.1002/ajmg.a.35236. Epub 2012 Mar 9.
5
Hypogammaglobulinemia and Silver-Russell phenotype associated with partial trisomy 7q and partial monosomy 21q.低丙种球蛋白血症和Silver-Russell表型与7q部分三体和21q部分单体相关。
Am J Med Genet A. 2009 Feb;149A(2):277-9. doi: 10.1002/ajmg.a.32617.
6
Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype.具有轻微近端缺失的镜像对称重复21号染色体，且在一名无典型唐氏综合征表型的儿童中存在新着丝粒。
Am J Med Genet. 2000 Mar 13;91(2):116-22. doi: 10.1002/(sici)1096-8628(20000313)91:2<116::aid-ajmg7>3.0.co;2-q.
7
Monosomy and trisomy 1q44-qter in two sisters originating from a half cryptic 1q;15p translocation.源自一个半隐匿性1q;15p易位的两姐妹出现1q44-qter单体和三体。
J Med Genet. 2000 Aug;37(8):612-5. doi: 10.1136/jmg.37.8.612.
8
Many unbalanced translocations show duplication of a translocation participant. Clinical and cytogenetic implications in myeloid hematologic malignancies.许多不平衡易位显示出易位参与片段的重复。髓系血液系统恶性肿瘤的临床和细胞遗传学意义。
Am J Hematol. 2000 Jul;64(3):161-9. doi: 10.1002/1096-8652(200007)64:3<161::aid-ajh4>3.0.co;2-q.
9
Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis.18号染色体短臂部分单体（18p11.2→pter）及21号染色体长臂三体（21q22.3→qter）合并无叶全前脑及上颌骨发育不全的产前诊断
Prenat Diagn. 2001 May;21(5):346-50. doi: 10.1002/pd.63.
10
An unusual clinical characterization of a male with distal partial trisomy 1q42.1 and monosomy 4q35.1 and review of the literature.一名患有1q42.1远端部分三体性和4q35.1单体性男性的异常临床特征及文献复习
Genet Couns. 2006;17(4):435-40.

引用本文的文献

1
Machine learning analysis of cervical balance in early-onset scoliosis post-growing rod surgery: a case-control study.生长棒手术后早发性脊柱侧凸颈椎平衡的机器学习分析：一项病例对照研究。
Sci Rep. 2025 Jan 15;15(1):2024. doi: 10.1038/s41598-025-86330-2.

本文引用的文献

1
Surgical site infections in early onset scoliosis: what are long-term outcomes in patients with traditional growing rods?早发性脊柱侧凸患者的手术部位感染：传统生长棒治疗患者的长期结果如何？
Spine Deform. 2022 Mar;10(2):465-470. doi: 10.1007/s43390-021-00412-5. Epub 2021 Sep 18.
2
Complications in the treatment of EOS: Is there a difference between rib vs. spine-based proximal anchors?EOS 治疗中的并发症：肋骨与脊柱为基础的近端锚定物之间是否存在差异？
Spine Deform. 2021 Jan;9(1):247-253. doi: 10.1007/s43390-020-00200-7. Epub 2020 Sep 21.
3
Preoperative Halo Traction for Severe Scoliosis.
术前 Halo 牵引治疗重度脊柱侧凸。
Spine (Phila Pa 1976). 2020 Sep 15;45(18):E1158-E1165. doi: 10.1097/BRS.0000000000003530.
4
Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation.与4q32.1q35.2重复相关的1q43q44缺失的细胞基因组特征及表型相关性
Mol Cytogenet. 2018 Nov 6;11:57. doi: 10.1186/s13039-018-0406-0. eCollection 2018.
5
Risk Factors for Surgical Site Infections Following Vertical Expandable Prosthetic Titanium Rib (VEPTR) Surgery in Children.儿童垂直可扩张人工钛肋骨（VEPTR）手术后手术部位感染的危险因素
Spine Deform. 2018 Nov-Dec;6(6):791-796. doi: 10.1016/j.jspd.2018.03.016.
6
Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report.2例患有发育迟缓及先天性异常的表亲因家族性易位t(1;21)(q43;q22)导致的相反染色体构成：病例报告
Medicine (Baltimore). 2017 Apr;96(16):e6521. doi: 10.1097/MD.0000000000006521.
7
Final Fusion After Growing-Rod Treatment for Early Onset Scoliosis: Is It Really Final?生长棒治疗早发性脊柱侧弯后的最终融合：这真的是最终结果吗？
J Bone Joint Surg Am. 2016 Nov 16;98(22):1913-1917. doi: 10.2106/JBJS.15.01334.
8
Variability of Surgical Site Infection With VEPTR at Eight Centers: A Retrospective Cohort Analysis.八个中心使用垂直可扩张钛肋骨植入术的手术部位感染变异性：一项回顾性队列分析。
Spine Deform. 2016 Jan;4(1):59-64. doi: 10.1016/j.jspd.2015.07.009. Epub 2015 Dec 23.
9
Complications in using the vertical expandable prosthetic titanium rib (VEPTR) in children.儿童使用垂直可扩张人工钛肋（VEPTR）的并发症。
J Pediatr Surg. 2016 Nov;51(11):1747-1750. doi: 10.1016/j.jpedsurg.2016.06.014. Epub 2016 Jun 26.
10
Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype.对伴有或不伴有唐氏综合征的21号染色体部分三体病例进行的系统重新分析表明，21q22.13上的一个小区域对该表型至关重要。
Hum Mol Genet. 2016 Jun 15;25(12):2525-2538. doi: 10.1093/hmg/ddw116. Epub 2016 Apr 22.