Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: A genotype-phenotype analysis
Author:
Affiliation:
1. Medical Genetics Unit; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico; Milan Italy
2. Laboratory of Medical Genetics; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico; Milan Italy
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37063/fullpdf
Reference44 articles.
1. Case of partial duplication 2q3 with characteristic phenotype: Rare occurrence of an unbalanced offspring resulting from a parental pericentric inversion;Angle;Am J Med Genet,2000
2. Blepharophimosis and mental retardation (Bmr) phenotypes caused by chromosomal rearrangements: Description in a boy with partial trisomy 10q and monosomy 4q and review of the literature;Bartholdi;Eur J Med Genet,2008
3. Effective monosomy or trisomy of chromosome band 2q37.3 due to the unbalanced segregation of a 2;11 translocation;Batstone;Am J Med Genet,2003
4. Phenotypic variability of a 4q34-qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother;Bendavid;Eur J Med Genet,2007
5. Chromosome 2q duplications: Case report of a de novo interstitial duplication and review of the literature;Bird;Am J Med Genet,2001
Cited by 4 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. Distal 2q duplication in a patient with intellectual disability;Human Genome Variation;2022-11-10
2. Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings;American Journal of Medical Genetics Part A;2021-05-27
3. Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat;Molecular Cytogenetics;2020-05-19
4. A CNV Catalogue;Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis;2017
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