Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome
Author:
Funder
Japan Society for the Promotion of Science
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s00439-020-02196-6.pdf
Reference34 articles.
1. Braddock SR, Carey JC (1994) A new syndrome: congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay. Clin Dysmorphol 3(1):75–81
2. Braddock SR, South ST, Schiffman JD, Longhurst M, Rowe LR, Carey JC (2016) Braddock-Carey syndrome: A 21q22 contiguous gene syndrome encompassing RUNX1. Am J Med Genet A 170(10):2580–2586. https://doi.org/10.1002/ajmg.a.37870
3. Capkova P, Misovicova N, Vrbicka D (2014) Partial trisomy and tetrasomy of chromosome 21 without Down Syndrome phenotype and short overview of genotype-phenotype correlation. A case report. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 158(2):321–325. https://doi.org/10.5507/bp.2013.077
4. Chang KT, Min KT (2009) Upregulation of three Drosophila homologs of human chromosome 21 genes alters synaptic function: implications for Down syndrome. Proc Natl Acad Sci U S A 106(40):17117–17122. https://doi.org/10.1073/pnas.0904397106
5. Clark BE, Shooter C, Smith F, Brawand D, Thein SL (2017) Next-generation sequencing as a tool for breakpoint analysis in rearrangements of the globin gene clusters. Int J Lab Hematol 39(Suppl 1):111–120. https://doi.org/10.1111/ijlh.12680
Cited by 7 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. Glass syndrome derived from chromosomal breakage downstream region of SATB2;Brain and Development;2024-10
2. Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia, and seizures;Journal of Human Genetics;2024-08-09
3. Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns;Journal of Human Genetics;2023-07-10
4. Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2C;American Journal of Medical Genetics Part A;2023-03-14
5. Long‐read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements;American Journal of Medical Genetics Part A;2022-10-25
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