• 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

3q29 Chromosomal duplication in a neonate with associated myelomeningocele and midline cranial defects.

作者信息

Lawrence Marley B, Arreola Alexandra, Cools Michael, Elton Scott, Wood Karen S

机构信息

Departments of aPediatrics bPathology and Laboratory Medicine cNeurosurgery dDivision of Neonatal-Perinatal Medicine, Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

出版信息

Clin Dysmorphol. 2017 Oct;26(4):221-223. doi: 10.1097/MCD.0000000000000193.

DOI:10.1097/MCD.0000000000000193
PMID:28763312
Abstract
摘要

相似文献

1
3q29 Chromosomal duplication in a neonate with associated myelomeningocele and midline cranial defects.一名患有脊髓脊膜膨出和中线颅骨缺损的新生儿的3q29染色体重复。
Clin Dysmorphol. 2017 Oct;26(4):221-223. doi: 10.1097/MCD.0000000000000193.
2
[Skull lacunae in myelomeningocele].[脊髓脊膜膨出中的颅骨腔隙]
Sem Hop. 1983 Mar 24;59(12):797-800.
3
[Craniolacunia in newborns with myelomeningocele and encephalocele (author's transl)].
No Shinkei Geka. 1978 Oct;6(10):975-9.
4
3q29 microduplication syndrome: Clinical and molecular description of eleven new cases.3q29 微重复综合征:十一例新病例的临床和分子描述。
Eur J Med Genet. 2020 Dec;63(12):104083. doi: 10.1016/j.ejmg.2020.104083. Epub 2020 Oct 9.
5
New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry.与 3q29 重复综合征相关的新表型:来自 3q29 登记处的结果。
Am J Med Genet A. 2020 May;182(5):1152-1166. doi: 10.1002/ajmg.a.61540. Epub 2020 Mar 10.
6
A familial rearrangement(3;5;9) with paternal and maternal transmission leading to a duplication 3p/ deletion 5p infant.一种具有父系和母系传递的家族性重排(3;5;9),导致一名3p重复/5p缺失的婴儿。
Clinics (Sao Paulo). 2012;67(6):669-72. doi: 10.6061/clinics/2012(06)19.
7
Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele.3号染色体远端短臂倒位重复与叶状全前脑畸形和腰骶部脊髓脊膜膨出相关。
Am J Med Genet. 2000 Mar 20;91(3):167-70.
8
Ultrasound diagnosis of luckenschadel (lacunar skull).颅骨筛孔(腔隙性颅骨)的超声诊断
Pediatr Radiol. 2000 Feb;30(2):82-4. doi: 10.1007/s002470050019.
9
A case of dup(3q) syndrome.一例3号染色体长臂重复综合征病例。
Genet Couns. 2013;24(4):381-5.
10
[Changes in the skull in surviving patients with myelomeningocele].[脊髓脊膜膨出存活患者颅骨的变化]
Cesk Pediatr. 1982 Aug;37(8):459-60.

引用本文的文献

1
Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single-Gene BDH1 Duplications.3q29重复综合征的遗传结构与临床多态性解析:文献综述及两例单基因BDH1重复新病例报告
Mol Genet Genomic Med. 2025 Jan;13(1):e70047. doi: 10.1002/mgg3.70047.
2
A familial 3q28q29 duplication induced mild intellectual disability: case presentation and literature review.家族性3q28q29重复导致轻度智力障碍:病例报告及文献综述
Am J Transl Res. 2022 Mar 15;14(3):1663-1671. eCollection 2022.
3
Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury.
患者存在全面发育迟缓伴自伤,携带导致 3q28 末端重复和 10q26.2 末端缺失的非平衡易位的特征。
Cold Spring Harb Mol Case Stud. 2020 Dec 17;6(6). doi: 10.1101/mcs.a005884. Print 2020 Dec.
4
New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry.与 3q29 重复综合征相关的新表型:来自 3q29 登记处的结果。
Am J Med Genet A. 2020 May;182(5):1152-1166. doi: 10.1002/ajmg.a.61540. Epub 2020 Mar 10.