| Literature DB >> 17337261 |
Bernard Thienpont1, Luc Mertens, Gunnar Buyse, Joris R Vermeesch, Koen Devriendt.
Abstract
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.Entities:
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Year: 2007 PMID： 17337261 DOI： 10.1016/j.ejmg.2007.01.002
Source DB: PubMed Journal: Eur J Med Genet ISSN： 1769-7212 Impact factor: 2.708