• 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

印度患有特发性智力残疾/发育迟缓儿童的亚端粒重排：使用荧光原位杂交（FISH）进行频率估计及临床相关性研究

Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescence hybridization (FISH).

作者信息

Mohan Shruthi, Koshy Teena, Vekatachalam Perumal, Nampoothiri Sheela, Yesodharan Dhanya, Gowrishankar Kalpana, Kumar Jeevan, Ravichandran Latha, Joseph Santhosh, Chandrasekaran Anupama, Paul Solomon F D

机构信息

Department of Human Genetics, Sri Ramachandra University, Porur, India.

Department of Paediatric Genetics, Amrita Institute of Medical Sciences, Kochi, India.

出版信息

Indian J Med Res. 2016 Aug;144(2):206-214. doi: 10.4103/0971-5916.195031.

DOI:10.4103/0971-5916.195031
PMID:27934799
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5206871/
Abstract

BACKGROUND & OBJECTIVES: Subtelomeres are prone to deleterious rearrangements owing to their proximity to unique sequences on the one end and telomeric repetitive sequences, which increase their tendency to recombine, on the other end. These subtelomeric rearrangements resulting in segmental aneusomy are reported to contribute to the aetiology of idiopathic intellectual disability/developmental delay (ID/DD). We undertook this study to estimate the frequency of subtelomeric rearrangements in children with ID/DD.

METHODS

One hundred and twenty seven children with idiopathic ID/DD were tested for subtelomeric rearrangements using karyotyping and FISH. Blood samples were cultured, harvested, fixed and GTG-banded using the standard protocols.

RESULTS

Rearrangements involving the subtelomeres were observed in 7.8 per cent of the tested samples. Detection of rearrangements visible at the resolution of the karyotype constituted 2.3 per cent, while those rearrangements detected only with FISH constituted 5.5 per cent. Five deletions and five unbalanced translocations were detected. Analysis of parental samples wherever possible was informative regarding the inheritance of the rearrangement.

INTERPRETATION & CONCLUSIONS: The frequency of subtelomeric rearrangements observed in this study was within the reported range of 0-35 per cent. All abnormal genotypes were clinically correlated. Further analysis with array technologies presents a future prospect. Our results suggest the need to test individuals with ID/DD for subtelomeric rearrangements using sensitive methods such as FISH.

摘要

背景与目的

亚端粒因其一端靠近独特序列，另一端靠近端粒重复序列，容易发生有害重排，这增加了它们的重组倾向。据报道，这些导致节段性非整倍体的亚端粒重排与特发性智力残疾/发育迟缓（ID/DD）的病因有关。我们开展这项研究以估计ID/DD儿童中亚端粒重排的频率。

方法

使用核型分析和荧光原位杂交（FISH）技术对127例特发性ID/DD儿童进行亚端粒重排检测。按照标准方案对血样进行培养、收获、固定并进行GTG显带。

结果

在7.8%的检测样本中观察到涉及亚端粒的重排。在核型分辨率下可见的重排检测率为2.3%，而仅通过FISH检测到的重排率为5.5%。检测到5例缺失和5例不平衡易位。尽可能对亲代样本进行分析，对于重排的遗传情况具有参考价值。

解读与结论

本研究中观察到的亚端粒重排频率在报道的0%-35%范围内。所有异常基因型均与临床相关。使用阵列技术进行进一步分析是未来的一个研究方向。我们的结果表明，有必要使用FISH等敏感方法对ID/DD个体进行亚端粒重排检测。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b18/5206871/f1bb9b2941d7/IJMR-144-206-g010.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b18/5206871/9affaa02f474/IJMR-144-206-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b18/5206871/4f61be94439d/IJMR-144-206-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b18/5206871/1017cc091891/IJMR-144-206-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b18/5206871/6e15d8c624df/IJMR-144-206-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b18/5206871/51ad5ed385d8/IJMR-144-206-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b18/5206871/e87f80962703/IJMR-144-206-g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b18/5206871/46a7930ca63d/IJMR-144-206-g009.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b18/5206871/f1bb9b2941d7/IJMR-144-206-g010.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b18/5206871/9affaa02f474/IJMR-144-206-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b18/5206871/4f61be94439d/IJMR-144-206-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b18/5206871/1017cc091891/IJMR-144-206-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b18/5206871/6e15d8c624df/IJMR-144-206-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b18/5206871/51ad5ed385d8/IJMR-144-206-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b18/5206871/e87f80962703/IJMR-144-206-g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b18/5206871/46a7930ca63d/IJMR-144-206-g009.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b18/5206871/f1bb9b2941d7/IJMR-144-206-g010.jpg

相似文献

1
Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescence hybridization (FISH).印度患有特发性智力残疾/发育迟缓儿童的亚端粒重排：使用荧光原位杂交（FISH）进行频率估计及临床相关性研究
Indian J Med Res. 2016 Aug;144(2):206-214. doi: 10.4103/0971-5916.195031.
2
[Detection of subtelomeric rearrangements in patients with idiopathic mental retardation/developmental delay].[特发性智力迟钝/发育迟缓患者亚端粒重排的检测]
Zhonghua Er Ke Za Zhi. 2007 Dec;45(12):906-11.
3
Subtelomeric chromosome rearrangements in children with idiopathic mental retardation: applicability of three molecular-cytogenetic methods.特发性智力障碍儿童的亚端粒染色体重排：三种分子细胞遗传学方法的适用性
Croat Med J. 2006 Dec;47(6):841-50.
4
Subtelomeric screening in Serbian children with dysmorphic features and unexplained developmental delay/intellectual disabilities.对具有畸形特征和不明原因发育迟缓/智力残疾的塞尔维亚儿童进行亚端粒筛查。
Turk J Pediatr. 2015 Mar-Apr;57(2):154-60.
5
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.通过微阵列分析鉴定亚端粒区域的染色体异常：5380例病例的研究
Am J Med Genet A. 2008 Sep 1;146A(17):2242-51. doi: 10.1002/ajmg.a.32399.
6
Subtelomeric rearrangements detected in patients with idiopathic mental retardation.在特发性智力障碍患者中检测到的亚端粒重排。
Am J Med Genet. 2002 Feb 1;107(4):275-84. doi: 10.1002/ajmg.10029.
7
Primed in situ labeling technique for subtelomeric rearrangements in 70 children with idiopathic mental retardation.用于70例特发性智力障碍患儿亚端粒重排的原位引物标记技术
J Huazhong Univ Sci Technolog Med Sci. 2011 Dec;31(6):834-836. doi: 10.1007/s11596-011-0686-7. Epub 2011 Dec 16.
8
Detecting rearrangements in children using subtelomeric FISH and SKY.使用亚端粒荧光原位杂交技术（FISH）和光谱核型分析技术（SKY）检测儿童染色体重排。
Am J Med Genet. 2002 Feb 1;107(4):267-74. doi: 10.1002/ajmg.10240.
9
Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients.亚端粒荧光DNA探针在425例患者染色体异常检测中的应用
Genet Med. 2003 Jan-Feb;5(1):28-34. doi: 10.1097/00125817-200301000-00005.
10
Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients.多重连接依赖探针扩增技术在不明原因智力发育迟缓病因鉴定中的临床应用：对203例印度患者的研究
Indian J Med Res. 2014 Jan;139(1):66-75.

引用本文的文献

1
Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil.识别智力残疾患者的遗传病因：巴西东北部公共卫生服务的一项经验。
J Pediatr Genet. 2022 Nov 14;13(2):90-98. doi: 10.1055/s-0042-1757888. eCollection 2024 Jun.
2
Subtelomeric Rearrangements in Patients with Recurrent Miscarriage.复发性流产患者的亚端粒重排
Int J Fertil Steril. 2018 Jun;12(3):218-222. doi: 10.22074/ijfs.2018.5260. Epub 2018 Jun 20.
3
Genomic imbalance in subjects with idiopathic intellectual disability detected by multiplex ligation-dependent probe amplification.

本文引用的文献

1
Genetic influences on brain developmental trajectories on neuroimaging studies: from infancy to young adulthood.神经影像学研究中基因对大脑发育轨迹的影响：从婴儿期到青年期
Brain Imaging Behav. 2014 Jun;8(2):234-50. doi: 10.1007/s11682-013-9260-1.
2
Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study.印度尼西亚一大群不明原因智力残疾个体的亚端粒染色体重排：一项临床与分子研究。
Indian J Hum Genet. 2013 Apr;19(2):171-8. doi: 10.4103/0971-6866.116118.
3
Multiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India.
通过多重连接依赖探针扩增检测到的特发性智力障碍患者的基因组失衡。
J Genet. 2016 Jun;95(2):469-74. doi: 10.1007/s12041-016-0644-z.
印度南部特发性智力障碍儿童的多重连接依赖探针扩增研究。
Indian J Hum Genet. 2013 Apr;19(2):165-70. doi: 10.4103/0971-6866.116115.
4
Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report.临床异常病例：父源8号染色体短臂23.3至12区部分三体，包括母源8号染色体短臂23.3等二体：一例报告
Mol Cytogenet. 2009 Jun 30;2:14. doi: 10.1186/1755-8166-2-14.
5
Obesity syndrome, MOMES caused by deletion-duplication (4q35.1 del and 5p14.3 dup).肥胖综合征，由缺失-重复（4q35.1缺失和5p14.3重复）引起的MOMES。
Am J Med Genet A. 2009 Feb 15;149A(4):833-4. doi: 10.1002/ajmg.a.32722.
6
3q29 interstitial microduplication: a new syndrome in a three-generation family.3q29间质性微重复：一个三代家系中的新综合征。
Am J Med Genet A. 2008 Mar 1;146A(5):601-9. doi: 10.1002/ajmg.a.32190.
7
Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map.通过高分辨率阵列比较基因组杂交技术对18号染色体长臂缺失进行基因型-表型定位：表型图谱的更新
Am J Med Genet A. 2007 Aug 15;143A(16):1858-67. doi: 10.1002/ajmg.a.31850.
8
Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities.对11688例病例进行的亚端粒荧光原位杂交分析：发育障碍个体中亚端粒重排频率及模式的评估
J Med Genet. 2006 Jun;43(6):478-89. doi: 10.1136/jmg.2005.036350. Epub 2005 Sep 30.
9
Subtelomeric rearrangements in idiopathic mental retardation.特发性智力障碍中的亚端粒重排
Indian J Pediatr. 2005 Aug;72(8):679-85. doi: 10.1007/BF02724077.
10
Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.智力障碍个体的诊断性调查：对其效用的系统文献综述
Eur J Hum Genet. 2005 Jan;13(1):6-25. doi: 10.1038/sj.ejhg.5201279.