• 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

[Partial monosomy due to long-arm deletion of chromosome 11 : del (11) (q23) (author's transl)].

作者信息

Léonard C, Courpotin C, Labrune B, Lepercq G, Kachaner J, Caut P

出版信息

Ann Genet. 1979 Jun;22(2):115-20.

PMID:315201
Abstract

A girl, who died at 25 days of age, was found to have a partial monosomy due to a 11q23 leads to 11qter deletion. The main clinical findings were trigonocephay, facial dysmorphia, and congenital heart disease. A review of developmental and dysmorphic features of the seventeen recognized cases is presented.

摘要

相似文献

1
[Partial monosomy due to long-arm deletion of chromosome 11 : del (11) (q23) (author's transl)].
Ann Genet. 1979 Jun;22(2):115-20.
2
[Partial monosomy 11q. A new case].
Ann Genet. 1977 Mar;20(1):63-6.
3
Brief clinical report: deletion of the long arm of chromosome 11, [del(11)(q23)].简要临床报告:11号染色体长臂缺失,[del(11)(q23)] 。
Am J Med Genet. 1982 Nov;13(3):299-304. doi: 10.1002/ajmg.1320130312.
4
[Monosomy 7qter (author's transl)].
Arch Fr Pediatr. 1981 Mar;38(3):177-80.
5
Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies.一名患有多种先天性异常的女新生儿中存在17号染色体独特的新发间质性缺失,即del(17)(q23.2q24.3) 。
Am J Med Genet. 1995 Jan 2;55(1):30-2. doi: 10.1002/ajmg.1320550110.
6
Monosomy 11Q: report of new phenotypic manifestations.11号染色体长臂单体:新表型表现的报告。
Genet Couns. 2001;12(3):283-6.
7
[9p monosomy. About a new case. Clinical and cytogenetic study (author's transl)].
Ann Pediatr (Paris). 1979 Nov;26(9):631-6.
8
Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)].
Am J Med Genet. 1996 Jan 2;61(1):45-8. doi: 10.1002/(SICI)1096-8628(19960102)61:1<45::AID-AJMG9>3.0.CO;2-W.
9
Distal 11q deletion: a specific clinical entity.11号染色体长臂远端缺失:一种特定的临床实体。
Helv Paediatr Acta. 1987 Oct;42(2-3):191-4.
10
De novo interstitial deletion of the long arm of chromosome 7:46,XY,del(7)(q23;q32).7号染色体长臂的新发间质性缺失:46,XY,del(7)(q23;q32)
Ann Genet. 1985;28(4):251-3.

引用本文的文献

1
Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.雅各布森综合征:1例伴有严重眼部异常、生长激素缺乏及甲状腺功能减退且与11号染色体(q23q25)缺失相关的患者报告及52例病例回顾
J Med Genet. 1996 Sep;33(9):772-8. doi: 10.1136/jmg.33.9.772.
2
The 11q;22q translocation: a European collaborative analysis of 43 cases.11号染色体与22号染色体易位:43例病例的欧洲协作分析
Hum Genet. 1980;56(1):21-51. doi: 10.1007/BF00281567.
3
Partial deletion of the long arm of chromosome 11 the Jacobsen syndrome.
11号染色体长臂部分缺失即雅各布森综合征。
Indian J Pediatr. 1984 May-Jun;51(410):359-62. doi: 10.1007/BF02754688.
4
Partial deletion of the long arm chromosome 11 in Jacobsen syndrome.雅各布森综合征中11号染色体长臂的部分缺失。
Indian J Pediatr. 1986 Jan-Feb;53(1):123-6. doi: 10.1007/BF02787084.
5
Chromosome deletion at 11q23 in an abnormal child from a family with inherited fragility at 11q23.来自一个11q23存在遗传性脆性的家族的一名异常儿童,其11q23染色体缺失。
Hum Genet. 1987 Jun;76(2):202-4. doi: 10.1007/BF00284923.
6
Interstitial deletion of 11q.11号染色体长臂间质缺失
J Med Genet. 1989 Mar;26(3):205-6.