Inverted duplication with terminal deletion of 5p and no cat-like cry
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference44 articles.
1. Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions
2. Prenatal detection of ade novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype
3. Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q
4. A paternally derived inverted duplication of distal 14q with a terminal 14q deletion
Cited by 18 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. An uninformative NIPT as an early indicator of cri‐du‐chat due to a chromosomal 5;18 translocation—An atypical presentation of a rare cytogenetic phenomenon;Clinical Case Reports;2023-07-30
2. A clinical case of inverted duplication with terminal deletion of the short arm of chromosome 5;Almanac of Clinical Medicine;2020-10-22
3. Inverted duplication, triplication and quintuplication through sequential breakage‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion;Molecular Genetics & Genomic Medicine;2019-09-02
4. Chromosome 5p Deletion Syndrome (Cri du Chat Syndrome);Obstetric Imaging: Fetal Diagnosis and Care;2018
5. Cri-du-Chat syndrome diagnosed in a 21-year-old woman by means of comparative genomic hybridization;Revista de la Facultad de Medicina;2017-07-01
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