• 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

通过配对测序对一名右位心胎儿中的一种新型反向重复序列进行产前特征分析。

Prenatal characterization of a novel inverted duplication by mate pair sequencing in a fetus with dextrocardia.

作者信息

Zepeda-Mendoza Cinthya J, Essendrup Anna, Smoley Stephanie A, Johnson Sarah H, Hoppman Nicole L, Vasmatzis George, Jackson Daniel L, Kearney Hutton M, Baughn Linda B

机构信息

Cytogenetics and Genomic Microarray Laboratory ARUP Laboratories Salt Lake City UT USA.

Division of Laboratory Genetics Department of Laboratory Medicine and Pathology, Mayo Clinic Rochester MN USA.

出版信息

Clin Case Rep. 2020 Dec 10;9(2):769-774. doi: 10.1002/ccr3.3608. eCollection 2021 Feb.

DOI:10.1002/ccr3.3608
PMID:33598243
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7869371/
Abstract

This case report underlines the importance of molecular characterization of genomic duplications and other structural variants in the prenatal setting to guide clinical interpretation, genetic counseling, and perinatal medical care.

摘要

本病例报告强调了在产前环境中对基因组重复和其他结构变异进行分子特征分析的重要性，以指导临床解释、遗传咨询和围产期医疗护理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4fe8/7869371/3adaf72c629f/CCR3-9-769-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4fe8/7869371/6b749bc48f72/CCR3-9-769-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4fe8/7869371/7cd8f7c04656/CCR3-9-769-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4fe8/7869371/3adaf72c629f/CCR3-9-769-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4fe8/7869371/6b749bc48f72/CCR3-9-769-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4fe8/7869371/7cd8f7c04656/CCR3-9-769-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4fe8/7869371/3adaf72c629f/CCR3-9-769-g003.jpg

相似文献

1
Prenatal characterization of a novel inverted duplication by mate pair sequencing in a fetus with dextrocardia.通过配对测序对一名右位心胎儿中的一种新型反向重复序列进行产前特征分析。
Clin Case Rep. 2020 Dec 10;9(2):769-774. doi: 10.1002/ccr3.3608. eCollection 2021 Feb.
2
Tandem and inverted duplications in haemophilia A: Breakpoint characterisation provides insight into possible rearrangement mechanisms.血友病 A 中的串联和倒位重复：断裂点特征提供了对可能的重排机制的深入了解。
Haemophilia. 2023 Jul;29(4):1121-1134. doi: 10.1111/hae.14799. Epub 2023 May 16.
3
Reclassification of Duplications as Benign: Recommendations for Cautious Interpretation of Variants Identified in Prenatal Screening.将重复序列重新分类为良性：产前筛查中发现的变异体需谨慎解读的建议。
Genes (Basel). 2022 Oct 28;13(11):1972. doi: 10.3390/genes13111972.
4
Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.用于检测智力残疾和先天性畸形患者染色体畸变的配对末端测序。
Eur J Hum Genet. 2014 May;22(5):652-9. doi: 10.1038/ejhg.2013.220. Epub 2013 Oct 9.
5
Comparing levocardia and dextrocardia in fetuses with heterotaxy syndrome: prenatal features, clinical significance and outcomes.比较心脏左移和右移在心脏异构综合征胎儿中的表现：产前特征、临床意义及结局。
BMC Pregnancy Childbirth. 2017 Nov 23;17(1):393. doi: 10.1186/s12884-017-1579-y.
6
A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case report.在一名患有1p36缺失综合征和平衡易位的胎儿中观察到的罕见右位心心脏表型：一例产前病例报告。
Mol Cytogenet. 2020 Nov 16;13(1):48. doi: 10.1186/s13039-020-00514-1.
7
Prenatal -related laterality defect: case report and review of the literature.产前相关的偏侧性缺陷：病例报告及文献综述
J Matern Fetal Neonatal Med. 2023 Dec;36(1):2201653. doi: 10.1080/14767058.2023.2201653.
8
Situs inversus totalis and a novel ZIC3 mutation in a family with X-linked heterotaxy.全内脏转位及一个X连锁心脏异位家系中的新型ZIC3突变
Congenit Heart Dis. 2013 Mar-Apr;8(2):E36-40. doi: 10.1111/j.1747-0803.2011.00602.x. Epub 2011 Dec 16.
9
Clinical and molecular characterization of an infant with a tandem duplication and deletion of 19p13.一名19p13存在串联重复和缺失的婴儿的临床及分子特征
Am J Med Genet A. 2015 Aug;167A(8):1884-9. doi: 10.1002/ajmg.a.37076. Epub 2015 Apr 21.
10
A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome.一名患有法洛四联症综合征胎儿的9号染色体q34.13-qter区域的新生重复。
Mol Cytogenet. 2016 Jul 25;9:54. doi: 10.1186/s13039-016-0267-3. eCollection 2016.

引用本文的文献

1
Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center.在一家三级医院，使用全外显子组测序对右位心胎儿进行产前遗传学诊断。
Sci Rep. 2024 Jul 15;14(1):16266. doi: 10.1038/s41598-024-67164-w.

本文引用的文献

1
Copy number variant analysis using genome-wide mate-pair sequencing.利用全基因组配对测序进行拷贝数变异分析。
Genes Chromosomes Cancer. 2018 Sep;57(9):459-470. doi: 10.1002/gcc.5. Epub 2018 Jul 30.
2
SVAtools for junction detection of genome-wide chromosomal rearrangements by mate-pair sequencing (MPseq).用于通过配对末端测序（MPseq）检测全基因组染色体重排连接点的SVAtools。
Cancer Genet. 2018 Feb;221:1-18. doi: 10.1016/j.cancergen.2017.11.009. Epub 2017 Dec 2.
3
Comparing levocardia and dextrocardia in fetuses with heterotaxy syndrome: prenatal features, clinical significance and outcomes.
比较心脏左移和右移在心脏异构综合征胎儿中的表现：产前特征、临床意义及结局。
BMC Pregnancy Childbirth. 2017 Nov 23;17(1):393. doi: 10.1186/s12884-017-1579-y.
4
Clinical utility of array comparative genomic hybridisation in prenatal setting.产前环境中阵列比较基因组杂交的临床应用。
BMC Med Genet. 2016 Nov 15;17(1):81. doi: 10.1186/s12881-016-0345-8.
5
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.结构性染色体重排需要核苷酸水平的分辨率：产前诊断中新一代测序的经验教训。
Am J Hum Genet. 2016 Nov 3;99(5):1015-1033. doi: 10.1016/j.ajhg.2016.08.022. Epub 2016 Oct 13.
6
Practice Bulletin No. 163: Screening for Fetal Aneuploidy.实践通报第 163 号：胎儿非整倍体筛查。
Obstet Gynecol. 2016 May;127(5):e123-e137. doi: 10.1097/AOG.0000000000001406.
7
Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders.实践公告第 162 号：遗传疾病的产前诊断检测。
Obstet Gynecol. 2016 May;127(5):e108-e122. doi: 10.1097/AOG.0000000000001405.
8
ClinVar: public archive of interpretations of clinically relevant variants.ClinVar：临床相关变异解读的公共存档库。
Nucleic Acids Res. 2016 Jan 4;44(D1):D862-8. doi: 10.1093/nar/gkv1222. Epub 2015 Nov 17.
9
SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.SMAD2 突变与动脉动脉瘤和夹层相关。
Hum Mutat. 2015 Dec;36(12):1145-9. doi: 10.1002/humu.22854. Epub 2015 Sep 10.
10
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.拓扑染色质结构域的破坏会导致基因-增强子相互作用的致病性重排。
Cell. 2015 May 21;161(5):1012-1025. doi: 10.1016/j.cell.2015.04.004. Epub 2015 May 7.