Title: Left-ventricular non-compaction in a patient with monosomy 1p36
Authors: Thienpont, Bernard ×
Mertens, Luc
Buyse, Gunnar
Vermeesch, Joris
Devriendt, Koenraad #
Issue Date: May-2007
Series Title: European Journal of Medical Genetics vol:50 issue:3 pages:233-236
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.
ISSN: 1769-7212
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Brain & Metabolism Section (-)
Clinical Genetics Section (-)
Pediatric Cardiology Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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