北京大学医学部机构知识库
Advanced  
IR@PKUHSC  > 北京大学第一临床医学院  > 儿科  > 期刊论文
学科主题: 临床医学
题名:
Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay
作者: Ji, Taoyun; Wu, Ye; Wang, Huifang; Wang, Jingmin; Jiang, Yuwu
关键词: Jacobsen syndrome ; JBS ; 11q deletion
刊名: JOURNAL OF HUMAN GENETICS
发表日期: 2010-08-01
DOI: 10.1038/jhg.2010.51
卷: 55, 期:8, 页:486-489
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: JACOBSEN-SYNDROME ; TERMINAL DELETION ; CONSTITUTIONAL T(11/22) ; CHROMOSOME ; GENE ; DISORDER ; TRANSLOCATION ; DEFECTS ; MICE
英文摘要:

Jacobsen syndrome (JBS) is a haploinsufficiency syndrome caused by partial deletion of the long arm of chromosome 11. It is characterized by developmental delay (DD)/mental retardation (MR), physical growth retardation, facial dysmorphism, visceral malformations and thrombocytopenia. We report two JBS patients from China out of a total of 451 patients with unexplained DD/MR. The genotypes of these patients were compared with earlier reported patients in North America and Europe. Both patients presented with severe DD, microcephaly and facial dysmorphism; one patient had a low birth weight, congenital heart disease and structural brain abnormalities. Neither patient was thrombocytopenic at the time of diagnosis. The two deletions were 4.1 and 12.8 Mb. The 4.1Mb deletion is the smallest of all pathogenic regions earlier reported in JBS. Therefore, the critical region underlying DD/MR might be located in the distal portion of the chromosomal segment within 4.1Mb of the telomere. Candidate genes for DD/MR in this region include SNX19, THYN1, OPCML, NCAPD3 and NTM. One of the critical regions for craniofacial abnormalities may be within 130.3-134.4 Mb in chromosome 11q. Further analysis of Chinese JBS patients would elucidate the relation of phenotype to genotype further. Journal of Human Genetics (2010) 55, 486-489; doi:10.1038/jhg.2010.51; published online 3 June 2010

语种: 英语
所属项目编号: 2007CB5119004 ; 7081004
项目资助者: National Key Research Project-973 of China ; Beijing Municipal Natural Science Key Project
WOS记录号: WOS:000281253100003
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/60887
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

Files in This Item:

There are no files associated with this item.


作者单位: Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China

Recommended Citation:
Ji, Taoyun,Wu, Ye,Wang, Huifang,et al. Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay[J]. JOURNAL OF HUMAN GENETICS,2010,55(8):486-489.
Service
Recommend this item
Sava as my favorate item
Show this item's statistics
Export Endnote File
Google Scholar
Similar articles in Google Scholar
[Ji, Taoyun]'s Articles
[Wu, Ye]'s Articles
[Wang, Huifang]'s Articles
CSDL cross search
Similar articles in CSDL Cross Search
[Ji, Taoyun]‘s Articles
[Wu, Ye]‘s Articles
[Wang, Huifang]‘s Articles
Related Copyright Policies
Null
Social Bookmarking
Add to CiteULike Add to Connotea Add to Del.icio.us Add to Digg Add to Reddit
所有评论 (0)
暂无评论
 
评注功能仅针对注册用户开放,请您登录
您对该条目有什么异议,请填写以下表单,管理员会尽快联系您。
内 容:
Email:  *
单位:
验证码:   刷新
您在IR的使用过程中有什么好的想法或者建议可以反馈给我们。
标 题:
 *
内 容:
Email:  *
验证码:   刷新

Items in IR are protected by copyright, with all rights reserved, unless otherwise indicated.

 

 

Valid XHTML 1.0!
Copyright © 2007-2017  北京大学医学部 - Feedback
Powered by CSpace