一名新生儿出现间质5号染色体15.2 - p13.3区域缺失，合并内脏反位、右位心、心室L袢及大动脉转位。
Interstitial 5p15.2-p13.3 deletion in association with situs inversus, dextrocardia, L-loop of the ventricles, and transposition of great arteries in a newborn infant.
作者信息
Manzar Shabih, Walyat Nitin, Jones Ryan C
机构信息
Department of Pediatrics, College of Medicine, Louisiana State University of Health Sciences, Shreveport, LA, USA.
出版信息
Cardiol Young. 2019 Aug;29(8):1115-1117. doi: 10.1017/S1047951119001689. Epub 2019 Jul 23.
PMID:31331405
Abstract
We report a rare association of interstitial deletion of 5p15.2-p13.3 with situs inversus, dextrocardia, L-loop of the ventricles, and transposition of great arteries: [I, L, L] Transposition of Great Arteries. We did not find such an association reported in the medical literature.
摘要
我们报告了一例罕见的5号染色体短臂15.2 - 13.3区域间质性缺失与内脏反位、右位心、心室L袢及大动脉转位（[I, L, L]型大动脉转位）的关联。我们在医学文献中未发现有此类关联的报道。
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