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Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion

机译：De Novo 16p13.3间质性删除患儿的双侧Ul骨尺骨突触和椎骨异常

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摘要

We describe an 8-year-old boy with developmental delay, clinical bilateral radial ulnar synostosis, Klippel-Feil anomaly, and other vertebral deformities who was found to have a de novo deletion of 114.5kb at 16p13.3. The deletion contains five genes and three miRNAs. The genes are E4F1, DNASE1L2, ECI1, RNPS1, and ABCA3; miRNAs are MIR3677, MIR940, and MIR4717. The specific deletion has never been previously reported. We describe the phenotype of the boy and review the genes in the deleted region. None of the regulatory elements have any known linkage to skeletal formation and/or maintenance. We believe this deletion is causative given that it was de novo and that this patient cannot be easily explained as having any other specific recognizable pattern of human malformation.

机译：我们描述了一个8岁的男孩，其发育迟缓，临床上的双侧syn尺骨突触，Klippel-Feil异常以及其他椎骨畸形在16p13.3时被发现具有114.5kb的从头缺失。该缺失包含五个基因和三个miRNA。这些基因是E4F1，DNASE1L2，ECI1，RNPS1和ABCA3； miRNA是MIR3677，MIR940和MIR4717。以前从未报告过特定的删除。我们描述了男孩的表型，并审查了删除区域中的基因。没有调节元件与骨骼形成和/或维持有任何已知的联系。我们认为这种删除是有原因的，因为它是从头开始的，并且该患者不能轻易地解释为具有人类畸形的任何其他可识别的特定模式。

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期刊名称 Case Reports in Genetics
作者
Allison Tam; Kit Shan Lee; Sansan Lee; William Burkhalter; Lucio U. Pascua; Thomas P. Slavin;
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年(卷),期 2013(2013),-1
年度 2013
页码 149085
总页数 4
原文格式 PDF
正文语种
中图分类遗传学;
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专利

1. Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with aDe Novo16p13.3 Interstitial Deletion [J] . AllisonTam, Kit ShanLee, SansanLee, Case Reports in Genetics . 2013,第1期

机译：小儿双侧径Syn骨突触和椎骨异常与aDe Novo16p13.3间质性删除。
2. Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies. [J] . Al Kateb H, Hahn A, Gastier Foster JM, American journal of medical genetics, Part A . 2010,第12期

机译：新型的，从头开始的，隐秘的间质性缺失在19p13.3的儿童中的表现，该患者是表皮发育不全和多个先天性异常的儿童。
3. Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion. [J] . Nelson M, Quinonez S, Ackley T, American journal of medical genetics, Part A . 2011,第3期

机译：与新出生的16p13.3缺失相关的男孩的多个先天性异常和发育延迟。
4. Left-right Upper Arm Length Asymmetry Associated with Apical Vertebral Rotation in Subjects with Thoracic Scoliosis: Anomaly of Bilateral Symmetry Affecting Vertebral, Costal and Upper Arm Physes? [C] . RG BURWELL, BJC FREEMAN, PH DANGERFIELD, International Research Society of Spinal Deformities . 2008

机译：左右上臂长度不对称与胸腔脊柱侧凸的主体椎体旋转相关：双侧对称性的异常影响椎体，肋骨和上臂物理物理学？
5. Coordinate interstitial deletions of retinoblastoma (RB1) and neurobeachin (NBEA) genes on chromosome 13 in MGUS and multiple myeloma. [D] . O'Neal, Julie. 2009

机译：MGUS和多发性骨髓瘤中13号染色体上的视网膜母细胞瘤（RB1）和神经沙滩蛋白（NBEA）基因的间质性缺失。
6. Case of Bilateral Radio-ulnar Synostosis associated with Bilateral Congenital Dislocation of Hips [O] . E. Laming Evans 1921

机译：双侧先天性髋关节脱位伴双侧放射性尺骨滑膜增生症
7. Case of Bilateral Radio-Ulnar Synostosis Associated with Bilateral Congenital Dislocation of Hips [O] . E. Laming Evans 1921

机译：双侧无线电岩石骨质术与双侧先天性先天性脱位相关的病例
8. 1.3 Mb de novo Deletion in Chromosome Band 3q29 Associated with Normal Intelligence in a Child [R] . Cobb, W., Anderson, A., Turner, C., 2010

机译：染色体带3q29中的1.3 mb de novo缺失与儿童的正常智力相关

Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion

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