• 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

Molecular characterization of isochromosomes of Xq.

作者信息

James R S, Dalton P, Gustashaw K, Wolff D J, Willard H F, Mitchell C, Jacobs P A

机构信息

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wilts, UK.

出版信息

Ann Hum Genet. 1997 Nov;61(Pt 6):485-90. doi: 10.1046/j.1469-1809.1997.6160485.x.

DOI:10.1046/j.1469-1809.1997.6160485.x
PMID:9543548
Abstract

We have undertaken a study of 35 patients with i(Xq) to determine whether those that are maternally derived originate by similar mechanisms to those that are paternally derived. Isochromosome formation is not associated with increased parental age and > 90% of i(Xq) contain proximal Xp sequences suggesting that centromere misdivision is not a common mechanism of formation. Our results indicate that the majority of i(Xq) originate from a single X chromosome and the usual mechanisms of formation do not appear to differ according to the parent of origin.

摘要

相似文献

1
Molecular characterization of isochromosomes of Xq.
Ann Hum Genet. 1997 Nov;61(Pt 6):485-90. doi: 10.1046/j.1469-1809.1997.6160485.x.
2
Molecular definition of breakpoints associated with human Xq isochromosomes: implications for mechanisms of formation.与人类X染色体等臂染色体相关的断点的分子定义：对形成机制的启示
Am J Hum Genet. 1996 Jan;58(1):154-60.
3
A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation.X等臂染色体的分子研究：亲本来源、着丝粒结构及形成机制。
Am J Hum Genet. 1991 Nov;49(5):1034-40.
4
Determining the origin of human X isochromosomes by use of DNA sequence polymorphisms and detection of an apparent i(Xq) with Xp sequences.利用DNA序列多态性确定人类X等臂染色体的起源并检测一条带有Xp序列的明显i(Xq)。
Hum Genet. 1987 Nov;77(3):236-40. doi: 10.1007/BF00284476.
5
Molecular studies of the parental origin and nature of human X isochromosomes.
Cytogenet Cell Genet. 1988;47(4):217-22. doi: 10.1159/000132553.
6
[Study of isochromosomes of the long arms of the X chromosome].
An Esp Pediatr. 1988 Aug;29(2):117-21.
7
Cytogenetic investigation of six patients with X isochromosomes, i(Xq), and of two subjects with isodicentric X chromosomes, idic (Xq).对6例具有X等臂染色体（i(Xq)）的患者和2例具有双着丝粒X染色体（idic(Xq)）的受试者进行细胞遗传学研究。
Hum Genet. 1981;58(4):362-5. doi: 10.1007/BF00282816.
8
[Rare chromosomal aberrations in the Shereshevskiĭ-Turner syndrome].
Tsitologiia. 1986 Jul;28(7):748-50.
9
Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation.等臂染色体12p和9p：亲本来源及可能的形成机制。
Eur J Hum Genet. 1998 Mar-Apr;6(2):140-4. doi: 10.1038/sj.ejhg.5200168.
10
Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function.来自特纳综合征的证据表明，一个印记X连锁基因座影响认知功能。
Nature. 1997 Jun 12;387(6634):705-8. doi: 10.1038/42706.

引用本文的文献

1
Chromosomal Abnormalities of Interest in Turner Syndrome: An Update.特纳综合征相关的染色体异常：最新进展
J Pediatr Genet. 2023 Jul 21;12(4):263-272. doi: 10.1055/s-0043-1770982. eCollection 2023 Dec.
2
Fragile X syndrome in a girl with variant Turner syndrome and an isodicentric X chromosome.脆性 X 综合征合并变异型 Turner 综合征和等臂 X 染色体的女孩。
BMJ Case Rep. 2022 Jul 26;15(7):e247901. doi: 10.1136/bcr-2021-247901.
3
Mosaic Turner syndrome shows reduced penetrance in an adult population study.马赛克特纳综合征在成年人群研究中表现出较低的外显率。
Genet Med. 2019 Apr;21(4):877-886. doi: 10.1038/s41436-018-0271-6. Epub 2018 Sep 5.
4
Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1).
Balkan J Med Genet. 2011 Jun;14(1):57-60. doi: 10.2478/v10034-011-0019-y.
5
FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.人近端 Xp 区的 FoSTeS、MMBIR 和 NAHR 以及人类 Xq 等臂染色体形成的机制。
Hum Mol Genet. 2011 May 15;20(10):1925-36. doi: 10.1093/hmg/ddr074. Epub 2011 Feb 24.
6
Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome.Xp11.2 内的大反向重复序列存在于 Turner 综合征等臂 X 染色体的断裂点处。
Hum Mol Genet. 2010 Sep 1;19(17):3383-93. doi: 10.1093/hmg/ddq250. Epub 2010 Jun 22.