• 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

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。

Dysmorphic features and congenital heart disease in chromosome 6q deletion: A short report.

作者信息

Nair Sreelata, Varghese Rini, Hashim Sajeed, Scariah Pappachan

机构信息

Department of Fetal Medicine, Lifeline Genetics and Research Centre, Lifeline Super Specialty Hospital, Adoor, Pathanamthitta, Kerala, India.

出版信息

Indian J Hum Genet. 2012 Jan;18(1):127-9. doi: 10.4103/0971-6866.96682.

DOI:10.4103/0971-6866.96682
PMID:22754239
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3385170/
Abstract

In this report, we describe a one and a half year old girl showing terminal deletion of long arm of chromosome 6q. The associated abnormalities such as congenital heart disease, mental retardation, and dysmorphic features are described. Cytogenetic studies with GTG banding showed 46,XX,del(6)(q24→qter). Karyotype of the parents was normal suggesting a denovo event.

摘要

在本报告中，我们描述了一名一岁半的女孩，其6号染色体长臂出现末端缺失。文中还描述了相关的异常情况，如先天性心脏病、智力发育迟缓及畸形特征。采用GTG显带技术进行的细胞遗传学研究显示核型为46,XX,del(6)(q24→qter)。父母的核型正常，提示这是一个新发事件。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2015/3385170/57a715e0599e/IJHG-18-127-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2015/3385170/64d7df2a1dce/IJHG-18-127-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2015/3385170/3777ce978cfd/IJHG-18-127-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2015/3385170/57a715e0599e/IJHG-18-127-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2015/3385170/64d7df2a1dce/IJHG-18-127-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2015/3385170/3777ce978cfd/IJHG-18-127-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2015/3385170/57a715e0599e/IJHG-18-127-g003.jpg

相似文献

1
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.
2
Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3.两名6号染色体q末端缺失患者，断点分别位于q24.3和q25.3。
Am J Med Genet. 1992 Jul 1;43(4):747-50. doi: 10.1002/ajmg.1320430419.
3
Partial deletion 11q: report of a case with a large terminal deletion 11q21-qter without loss of telomeric sequences, and review of the literature.
Clin Genet. 1995 May;47(5):231-5. doi: 10.1111/j.1399-0004.1995.tb04302.x.
4
Interstitial deletion of 6q without phenotypic effect.6q间质性缺失且无表型效应。
Am J Med Genet A. 2007 Jun 15;143A(12):1354-7. doi: 10.1002/ajmg.a.31783.
5
Distal deletion of the long arm of chromosome number 1 (q43-->qter) associated with severe mental retardation and a nonspecific dysmorphic syndrome.1号染色体长臂远端缺失（q43→qter），与严重智力发育迟缓及一种非特异性畸形综合征相关。
Ann Genet. 1992;35(3):167-9.
6
A de novo interstitial deletion of chromosome 15 band q25 as revealed by FISH-technique.
Clin Genet. 1996 Jun;49(6):303-5. doi: 10.1111/j.1399-0004.1996.tb03793.x.
7
Deletion 2q37: an identifiable clinical syndrome with mental retardation and autism.2q37缺失：一种伴有智力障碍和自闭症的可识别临床综合征。
J Child Neurol. 2008 Jul;23(7):802-6. doi: 10.1177/0883073808314150.
8
Two cases of 9p deletion syndrome and a case of partial trisomy 8 and partial monosomy 9p.两例9p缺失综合征以及一例8号染色体部分三体和9p部分单体病例。
Genet Couns. 2009;20(4):341-7.
9
Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature.16q24.1-qter部分三体的分子特征：临床报告及文献综述
Am J Med Genet. 2002 Dec 15;113(4):339-45. doi: 10.1002/ajmg.b.10740.
10
Terminal deletion of the long arm of chromosome 10 : q26 to qter. Case report and review of literature.10号染色体长臂末端缺失：从q26至qter。病例报告及文献复习。
Ann Genet. 1982;25(3):141-4.

引用本文的文献

1
Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion.一名患有智力残疾且携带6q26-qter末端缺失的轻度表型患者的发育协调障碍。
Front Genet. 2017 Dec 6;8:206. doi: 10.3389/fgene.2017.00206. eCollection 2017.

本文引用的文献

1
A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears.一名生长发育迟缓、患有心脏间隔缺损、上唇薄且耳朵不对称畸形的患者，其6号染色体长臂2区4带3亚带到25带1亚带存在一个2.6兆碱基的缺失。
Eur J Med Genet. 2007 Jul-Aug;50(4):315-21. doi: 10.1016/j.ejmg.2007.03.003. Epub 2007 Apr 14.
2
Leukocytes cultured from small inocula of whole blood and the preparation of metaphase chromosomes by treatment with hypotonic KCl.从小量全血接种物培养白细胞，并通过用低渗氯化钾处理制备中期染色体。
Stain Technol. 1965 Nov;40(6):333-8. doi: 10.3109/10520296509116440.
3
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.
4
Monosomy 6q: report on four new cases.6号染色体长臂单体：4例新病例报告。
Clin Genet. 1992 Mar;41(3):159-66. doi: 10.1111/j.1399-0004.1992.tb03655.x.