• 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

Terminal deletion of 6q and Fryns syndrome: a microdeletion/syndrome pair?

作者信息

Krassikoff N, Sekhon G S

出版信息

Am J Med Genet. 1990 Jul;36(3):363-4. doi: 10.1002/ajmg.1320360327.

DOI:10.1002/ajmg.1320360327
PMID:2363440
Abstract
摘要

相似文献

1
Terminal deletion of 6q and Fryns syndrome: a microdeletion/syndrome pair?6号染色体长臂末端缺失与弗林斯综合征：一种微缺失/综合征配对？
Am J Med Genet. 1990 Jul;36(3):363-4. doi: 10.1002/ajmg.1320360327.
2
Report of two cases of distal deletion of the long arm of chromosome 6.6号染色体长臂远端缺失两例报告。
Am J Med Genet. 1988 Apr;29(4):807-14. doi: 10.1002/ajmg.1320290410.
3
Deletion of proximal 6q: a clinical report and review of the literature.6号染色体长臂近端缺失：一份临床报告及文献综述
Am J Med Genet. 1986 Nov;25(3):467-71. doi: 10.1002/ajmg.1320250308.
4
Proximal interstitial 6q deletion: a recognizable syndrome.近端间质6q缺失：一种可识别的综合征。
Am J Med Genet. 1997 Aug 22;71(3):353-6.
5
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases.6q末端缺失综合征伴独特脑电图和临床模式：5例报告
Epilepsia. 2006 May;47(5):830-8. doi: 10.1111/j.1528-1167.2006.00522.x.
6
A malformed girl with a de novo proximal 6q deletion.一名患有新发6号染色体长臂近端缺失的畸形女孩。
Ann Genet. 1988;31(1):57-9.
7
Chromosome 6q deletions: a report of two additional cases and a review of the literature.6号染色体长臂缺失：两例新增病例报告及文献综述
Am J Med Genet. 1990 Jan;35(1):79-84. doi: 10.1002/ajmg.1320350115.
8
Deletion of terminal portion of 6q: report of a case with unusual malformations.6q末端部分缺失：一例伴有异常畸形病例的报告。
Am J Med Genet. 1989 Jan;32(1):81-6. doi: 10.1002/ajmg.1320320117.
9
A specific syndrome due to deletion of the distal long arm of chromosome 1.一种因1号染色体长臂远端缺失所致的特定综合征。
Am J Med Genet. 1987 Oct;28(2):371-6. doi: 10.1002/ajmg.1320280215.
10
Trisomy 6q syndrome: a case with a << de novo >> 6q23 tandem duplication.
Genet Couns. 2001;12(2):145-50.

引用本文的文献

1
Prenatal Ultrasound Diagnosis of Congenital Diaphragmatic Hernia in a Fetus With Fryns "Anophthalmia-Plus" Syndrome: A Case Report.胎儿患有弗林斯“无眼畸形综合征”合并先天性膈疝的产前超声诊断：一例报告
Cureus. 2024 Aug 28;16(8):e68000. doi: 10.7759/cureus.68000. eCollection 2024 Aug.
2
Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome - Literature Review.作为糖基磷脂酰肌醇生物合成缺陷产前特征的膈疝及其与弗林斯综合征的重叠——文献综述
Front Genet. 2021 Jun 7;12:674722. doi: 10.3389/fgene.2021.674722. eCollection 2021.
3
Dysmorphic features and congenital heart disease in chromosome 6q deletion: A short report.
6号染色体长臂缺失所致的畸形特征与先天性心脏病：一篇简短报告。
Indian J Hum Genet. 2012 Jan;18(1):127-9. doi: 10.4103/0971-6866.96682.
4
Identification of TCTE3 as a gene responsible for congenital diaphragmatic hernia using a high-resolution single-nucleotide polymorphism array.
Pediatr Surg Int. 2011 Feb;27(2):193-8. doi: 10.1007/s00383-010-2778-z.
5
Genetic factors in congenital diaphragmatic hernia.先天性膈疝的遗传因素。
Am J Hum Genet. 2007 May;80(5):825-45. doi: 10.1086/513442. Epub 2007 Apr 4.
6
Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations.采用基于微阵列的比较基因组杂交技术检测多发畸形胎儿的基因组失衡情况。
J Med Genet. 2005 Feb;42(2):121-8. doi: 10.1136/jmg.2004.025478.
7
Fryns syndrome: a case associated with karyotype XO.弗林斯综合征：一例与XO核型相关的病例。
Ann Saudi Med. 2004 Mar-Apr;24(2):129-32. doi: 10.5144/0256-4947.2004.129.
8
Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs.通过高分辨率显带和荧光原位杂交（FISH）对涉及3号染色体长臂、6号染色体长臂和15号染色体长臂的家族性三向易位进行分析，结果显示两个同胞具有两种不同的不平衡核型。
J Med Genet. 1998 Jul;35(7):545-53. doi: 10.1136/jmg.35.7.545.
9
Interstitial deletion of chromosome 6q: precise definition of the breakpoints by microdissection, DNA amplification, and reverse painting.6号染色体长臂间质缺失：通过显微切割、DNA扩增和反向染色体涂染精确界定断点
Hum Genet. 1996 Jun;97(6):705-9. doi: 10.1007/BF02346176.
10
Two fetuses with Fryns syndrome without diaphragmatic defects.两名患有弗林斯综合征但无膈肌缺陷的胎儿。
J Med Genet. 1994 Dec;31(12):962-4. doi: 10.1136/jmg.31.12.962.