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先天性二度房室传导阻滞及完全性肺静脉异位引流伴1q32.2微重复。

Congenital second-degree heart block and total anomalous pulmonary venous return associated with microduplication of 1q32.2.

作者信息

Puvabanditsin Surasak, Puthenpura Vidya, Gueye-Ndiaye Seyni, Takyi Michele, Madubuko Adaora, Walzer Lauren, Mehta Rajeev

机构信息

Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.

出版信息

Ann Pediatr Cardiol. 2018 May-Aug;11(2):194-196. doi: 10.4103/apc.APC_21_17.

Abstract

We report a term female infant with congenital heart block and total anomalous of pulmonary venous return. The results of single nucleotide polymorphism oligonucleotide microarray analysis showed an interstitial duplication of approximately 818 Kb, which involved 11 genes, including the entire LAMB3 gene which is known to associate with cardiac conduction defect. Our report adds to the collective knowledge that the cardiac conduction defect is a clinical feature of chromosome 1q32.2 duplication.

摘要

我们报告了一名患有先天性心脏传导阻滞和完全性肺静脉异位引流的足月儿女婴。单核苷酸多态性寡核苷酸微阵列分析结果显示存在一个约818 Kb的间质性重复,该重复涉及11个基因,包括已知与心脏传导缺陷相关的整个LAMB3基因。我们的报告增加了以下共同认识,即心脏传导缺陷是1q32.2染色体重复的临床特征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5449/5963235/3d2857aa41ab/APC-11-194-g001.jpg

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