First prenatal diagnosis of a ‘pure’ 9q34.3 deletion (Kleefstra syndrome): A case report and literature review
Author:
Affiliation:
1. EA7404-GIG; University Simone Veil of Health Sciences; UVSQ Montigny le Bretonneux France
2. Cytogenetics Laboratory; Poissy/St Germain Hospital; Poissy France
3. Lilas Hospital; Les Lilas France
4. Clement Laboratory; Le Blanc-Mesnil France
Publisher
Wiley
Subject
Obstetrics and Gynecology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/jog.13517/fullpdf
Reference11 articles.
1. Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion;Campbell;Birt Defects Res A Clin Mol Teratol,2014
2. Update on Kleefstra Syndrome;Willemsen;Mol Syndromol,2012
3. Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome;Kleefstra;Am J Hum Genet,2006
4. Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation;Simovich;Prenat Diagn,2007
5. Increased first-trimester nuchal translucency associated with a dicentric chromosome and 9q34.3 microdeletion syndrome;Huang;J Obstet Gynaecol,2017
Cited by 9 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. Occupational Therapy in Kleefstra Syndrome;IRAN J CHILD NEUROL;2024
2. Kleefstra syndrome presenting as pulmonary atresia with intact ventricular septum diagnosed prenatally at 16 weeks using four‐dimensional spatiotemporal image correlation;Ultrasound in Obstetrics & Gynecology;2023-12
3. Association of prenatal thoracic ultrasound abnormalities with copy number variants at a single Chinese tertiary center;International Journal of Gynecology & Obstetrics;2023-08-11
4. Cytogenetic analysis and family research for two cases of chromosome 6 microduplication and chromosome 9 microdeletion: Different clinical manifestations;Gynecology and Obstetrics Clinical Medicine;2023-03
5. MLPA analysis of 32 foetuses with a congenital heart defect and 1 foetus with renal defects - pilot study. The significant frequency rate of presented pathological CNV;Biomedical Papers;2021-03-31
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