• 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

Small supernumerary marker chromosomes - an update.

作者信息

Liehr Thomas

机构信息

Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany.

出版信息

Mol Cytogenet. 2014 Jan 21;7(Suppl 1 Proceedings of the International Conference on Human):I11. doi: 10.1186/1755-8166-7-S1-I11. eCollection 2014.

DOI:10.1186/1755-8166-7-S1-I11
PMID:24940369
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4043994/
Abstract
摘要

相似文献

1
Small supernumerary marker chromosomes - an update.小额外标记染色体——最新进展
Mol Cytogenet. 2014 Jan 21;7(Suppl 1 Proceedings of the International Conference on Human):I11. doi: 10.1186/1755-8166-7-S1-I11. eCollection 2014.
2
A series of supernumerary small ring marker autosomes identified by FISH with chromosome probe arrays and literature review excluding chromosome 15.通过染色体探针阵列荧光原位杂交(FISH)鉴定并经文献回顾排除15号染色体后发现的一系列额外小环状标记常染色体。
Am J Med Genet A. 2003 Mar 15;117A(3):212-22. doi: 10.1002/ajmg.a.10100.
3
Four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case report.一名临床异常轻微的患者体内发现源自6号、8号、11号和12号染色体的四条小额外标记染色体:病例报告
J Med Case Rep. 2010 Aug 3;4:239. doi: 10.1186/1752-1947-4-239.
4
Update and Review: Supernumerary Marker Chromosomes.最新进展与综述:额外标记染色体
J Genet Couns. 2000 Aug;9(4):347-58. doi: 10.1023/A:1009458230654.
5
Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: an update.通过荧光原位杂交鉴定的小额外标记染色体8的家族性传递:最新情况
Am J Med Genet. 1997 Oct 31;72(3):339-42. doi: 10.1002/(sici)1096-8628(19971031)72:3<339::aid-ajmg17>3.0.co;2-u.
6
Unexpected results in the constitution of small supernumerary marker chromosomes.小额外标记染色体构成中的意外结果。
Eur J Med Genet. 2012 Mar;55(3):185-90. doi: 10.1016/j.ejmg.2012.01.010. Epub 2012 Jan 28.
7
Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH.用于通过阵列比较基因组杂交检测和鉴定小的额外标记染色体的高密度着丝粒周围区域BAC克隆集的开发。
Genet Med. 2007 Mar;9(3):150-62. doi: 10.1097/gim.0b013e3180312087.
8
Detection of paternal uniparental disomy 9 in a neonate with prenatally detected mosaicism for a small supernumerary marker chromosome 9 and a supernumerary ring chromosome 9.在一名产前检测出小额外标记染色体9和额外环状染色体9嵌合体的新生儿中检测到父源单亲二体9。
Taiwan J Obstet Gynecol. 2017 Aug;56(4):527-533. doi: 10.1016/j.tjog.2017.06.002.
9
Complex small supernumerary marker chromosomes - an update.复杂的小额外标记染色体——最新进展
Mol Cytogenet. 2013 Oct 31;6:46. doi: 10.1186/1755-8166-6-46. eCollection 2013.
10
Chromothripsis Detectable in Small Supernumerary Marker Chromosomes (sSMC) Using Fluorescence In Situ Hybridization (FISH).利用荧光原位杂交(FISH)技术在小额外标记染色体(sSMC)中检测染色体碎裂现象
Methods Mol Biol. 2018;1769:79-84. doi: 10.1007/978-1-4939-7780-2_6.

引用本文的文献

1
Editorial: Co-occurrence of numerical and structural aberration-small supernumerary marker chromosomes and B-chromosomes.社论:数目和结构畸变——小额外标记染色体与B染色体的共现
Front Genet. 2024 Apr 17;15:1408674. doi: 10.3389/fgene.2024.1408674. eCollection 2024.
2
A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.一例伴有异常嵌合额外标记染色体12且该染色体存在12p13.1-p12.1间质性重复的帕利斯特-基利安综合征病例报告。
Front Genet. 2024 Mar 11;15:1331066. doi: 10.3389/fgene.2024.1331066. eCollection 2024.
3
A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature.一条源自母亲的涉及8号和14号染色体的复杂小额外标记染色体:病例报告及文献复习
Front Genet. 2024 Feb 23;15:1331676. doi: 10.3389/fgene.2024.1331676. eCollection 2024.
4
Small supernumerary marker chromosomes in prenatal diagnosis-molecular characterization and clinical outcomes.产前诊断中的小额外标记染色体——分子特征与临床结局
Front Genet. 2024 Jan 8;14:1326985. doi: 10.3389/fgene.2023.1326985. eCollection 2023.
5
Small supernumerary marker chromosomes derived from human chromosome 11.源自人类11号染色体的小额外标记染色体。
Front Genet. 2023 Dec 15;14:1293652. doi: 10.3389/fgene.2023.1293652. eCollection 2023.
6
Be careful with small supernumerary marker chromosomes!小心小的额外标记染色体!
Front Genet. 2023 Oct 10;14:1269679. doi: 10.3389/fgene.2023.1269679. eCollection 2023.
7
Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing.基于芯片的比较基因组杂交和显微切割染色体测序技术对小额外标记染色体10的产前诊断
Biomedicines. 2021 Aug 17;9(8):1030. doi: 10.3390/biomedicines9081030.
8
Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report.不育男性小额外标记染色体15的分子细胞遗传学特征:一例报告
Exp Ther Med. 2020 Apr;19(4):2927-2932. doi: 10.3892/etm.2020.8542. Epub 2020 Feb 21.
9
Maternal uniparental disomy of the chromosome 14: need for growth hormone provocative tests also when a deficiency is not suspected.母源14号染色体单亲二倍体:即使未怀疑生长激素缺乏,也需要进行生长激素激发试验。
BMJ Case Rep. 2019 May 10;12(5):e228662. doi: 10.1136/bcr-2018-228662.
10
Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling.由额外的5号标记染色体导致的5p13.3-q11.2重复的新型表型:对管理和遗传咨询的意义
Mol Cytogenet. 2018 Mar 27;11:23. doi: 10.1186/s13039-018-0372-6. eCollection 2018.