• 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

[Monosomy 7qter (author's transl)].

作者信息

Lambert J C, Mariani R, Donzeau M, Ferrari M, Boutte P, Ayraud N

出版信息

Arch Fr Pediatr. 1981 Mar;38(3):177-80.

PMID:7235841
Abstract

A terminal deletion of the long arm of chromosome 7 is identified in a boy observed from birth to age 6 months. Eleven previously reported cases were reviewed. Eleven previously reported cases were reviewed. The most common features are microcephaly with brachycephaly, prominent forehead, large ears, a nose with bulbous tip, overlapping toes, genital abnormalities in the males and excess of subcutaneous tissue. Delayed mental and physical development is a general rule but visceral malformations seem uncommon.

摘要

相似文献

1
[Monosomy 7qter (author's transl)].
Arch Fr Pediatr. 1981 Mar;38(3):177-80.
2
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.
3
[Monosomy 7qter (author's transl)].7号染色体长臂末端单体性(作者译)
Ann Genet. 1979;22(4):242-4.
4
[Ring chromosome 13 and multiple malformations (author's transl)].13号环状染色体与多种畸形(作者译)
An Esp Pediatr. 1981 Nov;15(5):469-73.
5
Caudal deficiency sequence in 7q terminal deletion.7q末端缺失中的尾部发育不全序列
Am J Med Genet. 1988 Jul;30(3):757-61. doi: 10.1002/ajmg.1320300309.
6
[Partial monosomy due to long-arm deletion of chromosome 11 : del (11) (q23) (author's transl)].
Ann Genet. 1979 Jun;22(2):115-20.
7
[18 short arm deletion. Report of one case (author's transl)].18号染色体短臂缺失。1例报告(作者译)
An Esp Pediatr. 1977 Jan;10(1):112-7.
8
[9p monosomy. About a new case. Clinical and cytogenetic study (author's transl)].
Ann Pediatr (Paris). 1979 Nov;26(9):631-6.
9
Terminal and interstitial deletions of the long arm of chromosome 7: a review with five new cases.7号染色体长臂的末端和中间缺失:附5例新病例的综述
Am J Med Genet. 1984 Feb;17(2):437-50. doi: 10.1002/ajmg.1320170207.
10
[Partial monosomy 11q. A new case].
Ann Genet. 1977 Mar;20(1):63-6.

引用本文的文献

1
Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres.使用染色体端粒的微卫星标记对特发性智力障碍儿童进行亚显微染色体重排筛查。
J Med Genet. 1999 May;36(5):405-11.