Inverted duplication, triplication and quintuplication through sequential breakage‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion
Author:
Affiliation:
1. Clinical Cytogenetics Laboratory Department of Genetics Yale University School of Medicine New Haven CT USA
2. Department of Pathology Yale University School of Medicine New Haven CT USA
Publisher
Wiley
Subject
Genetics(clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.965
Reference22 articles.
1. Integrated FISH, Karyotyping and aCGH analyses for effective prenatal diagnosis of common aneuploidies and other cytogenomic abnormalities;Chai H.;Medical Science,2019
2. Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies
3. 40 Mb duplication in chromosome band 5p13.1p15.33 with 800 kb terminal deletion in a foetus with mild phenotypic features
4. Molecular and Cytogenetic Evaluation of a Patient with Ring Chromosome 13 and Discordant Results
5. A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5
Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Patterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages;Global Medical Genetics;2024-01
2. Historical Perspective of Human Ring Chromosomes;Human Ring Chromosomes;2024
3. Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues;Molecular Cytogenetics;2021-04-02
4. A clinical case of inverted duplication with terminal deletion of the short arm of chromosome 5;Almanac of Clinical Medicine;2020-10-22
5. Ring chromosome formation by intra‐strand repairing of subtelomeric double stand breaks and clinico‐cytogenomic correlations for ring chromosome 9;American Journal of Medical Genetics Part A;2020-09-26
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3