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学科主题: 临床医学
题名:
Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation
作者: Wu, Ye1; Ji, Taoyun1; Wang, Jingmin1; Xiao, Jing2; Wang, Huifang1,3; Li, Jie1,3; Gao, Zhijie1,4; Yang, Yanling1; Cai, Bin5; Wang, Liwen4; Zhou, Zhongshu6; Tian, Lili7; Wang, Xiaozhu8; Zhong, Nan8; Qin, Jiong1; Wu, Xiru1; Jiang, Yuwu1
刊名: BMC MEDICAL GENETICS
发表日期: 2010-05-11
DOI: 10.1186/1471-2350-11-72
卷: 11
收录类别: SCI ; SSCI
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]: COMPARATIVE GENOMIC HYBRIDIZATION ; IDIOPATHIC MENTAL-RETARDATION ; TERMINAL DELETION DISORDER ; CHROMOSOMAL REARRANGEMENTS ; INTELLECTUAL DISABILITY ; ARRAY-CGH ; DIAGNOSTIC EVALUATION ; DYSMORPHIC FEATURES ; JACOBSEN SYNDROME ; 22Q13 DELETION
英文摘要:

Background: Subtelomeric imbalance is widely accepted as related to developmental delay/mental retardation (DD/MR). Fine mapping of aberrations in gene-enriched subtelomeric regions provides essential clues for localizing critical regions, and provides a strategy for identifying new candidate genes. To date, no large-scale study has been conducted on subtelomeric aberrations in DD/MR patients in mainland China.

Methods: This study included 451 Chinese children with moderate to severe clinically unexplained DD/MR. The subtelomere-MLPA (multiplex ligation dependent probe amplification) and Affymetrix human SNP array 6.0 were used to determine the subtelomeric copy number variations. The exact size and the breakpoint of each identified aberration were well defined.

Results: The submicroscopic subtelomeric aberrations were identified in 23 patients, with a detection rate of 5.1%. 16 patients had simple deletions, 2 had simple duplications and 5 with both deletions and duplications. The deletions involved 14 different subtelomeric regions (1p, 2p, 4p, 6p, 7p, 7q, 8p, 9p, 10p, 11q, 14q, 15q, 16p and 22q), and duplications involved 7 subtelomeric regions (3q, 4p, 6q, 7p, 8p, 12p and 22q). Of all the subtelomeric aberrations found in Chinese subjects, the most common was 4p16.3 deletion. The sizes of the deletions varied from 0.6 Mb to 12 Mb, with 5-143 genes inside. Duplicated regions were 0.26 Mb to 11 Mb, with 6-202 genes inside. In this study, four deleted subtelomeric regions and one duplicated region were smaller than any other previously reported, specifically the deletions in 11q25, 8p23.3, 7q36.3, 14q32.33, and the duplication in 22q13. Candidate genes inside each region were proposed.

Conclusions: Submicroscopic subtelomeric aberrations were detected in 5.1% of Chinese children with clinically unexplained DD/MR. Four deleted subtelomeric regions and one duplicated region found in this study were smaller than any previously reported, which will be helpful for further defining the candidate dosage sensitive gene associated with DD/MR.

语种: 英语
所属项目编号: 2007CB5119004 ; 7081004
项目资助者: Chinese National Key Research Project "973" ; Natural Science Foundation of Beijing
WOS记录号: WOS:000279919700001
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/51955
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: 1.Shanxi Med Univ, Taiyuan, Peoples R China
2.Peking Univ, Ctr Med Genet, Beijing 100871, Peoples R China
3.Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R China
4.Capital Med Univ, Dept Neurol, Beijing Childrens Hosp, Beijing, Peoples R China
5.Childrens Hosp, Dept Neurol, Capital Inst Pediat, Beijing, Peoples R China
6.CapitalBio Corp Natl Engn, Res Ctr Beijing Biochip Technol, Beijing, Peoples R China
7.China Japan Friendship Hosp, Dept Pediat, Beijing, Peoples R China
8.Capital Med Univ, Xuanwu Hosp, Dept Pediat, Beijing, Peoples R China

Recommended Citation:
Wu, Ye,Ji, Taoyun,Wang, Jingmin,et al. Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation[J]. BMC MEDICAL GENETICS,2010,11.
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