8p11 Microduplication Is Associated with Neonatal Stridor

Puvabanditsin S.; Gengel N.; Botti C.; Jacob M.; Jalil M.; Cabrera K.; Mehta R.

首页> 外文期刊>Molecular syndromology >8p11 Microduplication Is Associated with Neonatal Stridor

【24h】

8p11 Microduplication Is Associated with Neonatal Stridor

机译：8p11微复制与新生儿马鞍有关

获取原文

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

We report a term male infant with congenital stridor secondary to tracheomalacia and a mild coarctation of the aorta. Developmental delay was noted upon follow-up. Whole genome SNP microarray analysis showed an ～846-kb interstitial duplication of the short arm of chromosome 8 (8p11.21p11.1). We report novel clinical findings of this rare genetic condition.

机译：我们报告足月男婴先天性喘鸣继发于气管软化和主动脉轻度缩窄。随访发现发育迟缓。全基因组SNP芯片分析显示，第8号染色体（8p11.21p11.1）的短臂间有〜846-kb的间质重复。我们报告这种罕见的遗传病的新临床发现。

著录项

来源
《Molecular syndromology》 |2018年第6期|共4页
作者
Puvabanditsin S.; Gengel N.; Botti C.; Jacob M.; Jalil M.; Cabrera K.; Mehta R.;
展开▼
作者单位

展开▼
收录信息
原文格式 PDF
正文语种
中图分类基础医学;
关键词
Chromosomal microduplicationCongenital anomalyDevelopmental delayNeonatal stridor8p11.21 microduplication;

机译：染色体微复制先天性异常发育延迟新生儿stridor8p11.21微复制;

相似文献

外文文献
中文文献
专利

1. 8p11 Microduplication Is Associated with Neonatal Stridor [J] . Surasak Puvabanditsin, Natalie Gengel, Christina Botti, Molecular syndromology . 2018,第6期

机译：8P11微统计功能与新生儿前线有关
2. Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3. [J] . Heron SE, Scheffer IE, Grinton BE, Epilepsia: Journal of the International League against Epilepsy . 2010,第9期

机译：家族性新生儿癫痫发作是由染色体2q24.3的微复制引起的智力残疾。
3. Prenatal Use of Sildenafil in Fetal Growth Restriction and Its Effect on Neonatal Tissue Oxygenation—A Retrospective Analysis of Hemodynamic Data From Participants of the Dutch STRIDER Trial [J] . Fieke Terstappen, Elisabeth M. W. Kooi, Anne E. Richter, Frontiers in Pediatrics . 2020,第a期

机译：西地那非在胎儿生长限制中的产前用途及其对新生组组织氧气的影响 - 一种荷兰语演唱审判参与者血流动力学数据的回顾性分析
4. Long-Range Correlations of Stride Time, Stride Length and Stride Velocity during Feedback-Controlled Treadmill Walking [C] . J.S. Choi, D.W. Kang, J.H. Bae International Conference on Biomedical Engineering . 2014

机译：在反馈控制的跑步机行走期间步幅时间，步幅长度和步幅速度的远程相关性
5. Effects of Weight Shift and Timing of Heel Lift during Stride on Ground Reaction Force, Ball Speed, and Stride Kinematics in Amateur Baseball Pitchers [D] . Stephens, Brian. 2021

机译：在业余棒球投手的地面反作用力，球速和步伐运动中脚后跟升降机升降机的影响
6. 8p 11 Microduplication Is Associated with Neonatal Stridor [O] . Surasak Puvabanditsin, Natalie Gengel, Christina Botti, 2019

机译：8p 11微型重复与新生儿Stridor相关
7. Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3 [O] . Heron S., Scheffer I., Grinton B., 2010

机译：由染色体2q24.3的微复制引起的家族性新生儿智力残疾癫痫发作

8p11 Microduplication Is Associated with Neonatal Stridor

摘要

著录项

相似文献

相关主题

期刊订阅