Thienpont Bernard, Mertens Luc, Buyse Gunnar, Vermeesch Joris R, Devriendt Koen
Center for Human Genetics, Catholic University of Leuven, Herestraat 49, Leuven, Belgium.
Eur J Med Genet. 2007 May-Jun;50(3):233-6. doi: 10.1016/j.ejmg.2007.01.002. Epub 2007 Jan 27.
We report on a new-born girl with left ventricular non-compaction (LVNC), dysmorphism and epilepsy. Array-CGH at 1 Mb resolution revealed a deletion of the terminal 4.6 to 5.9 Mb of the short arm of chromosome 1. Cardiac abnormalities such as dilated cardiomyopathy and structural cardiac defects are common findings in patients with monosomy 1p36. This is however the first report describing LVNC in association with the 1p36 deletion syndrome, broadening the spectrum of cardiac anomalies found in association with this syndrome.
我们报告了一名患有左心室心肌致密化不全（LVNC）、畸形和癫痫的新生女婴。1兆碱基分辨率的阵列比较基因组杂交（Array-CGH）显示1号染色体短臂末端4.6至5.9兆碱基存在缺失。心脏异常，如扩张型心肌病和心脏结构缺陷，是1p36单体综合征患者的常见表现。然而，这是第一份描述LVNC与1p36缺失综合征相关的报告，拓宽了与该综合征相关的心脏异常谱。
