Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 152A, Issue 5, Pages 1295-1299Publisher
WILEY
DOI: 10.1002/ajmg.a.33367
Keywords
22q11.2 distal deletion; BCR gene; cardiac magnetic resonance imaging; cardiomyopathy; Dubowitz syndrome; DG/VCF; FISH; ventricular non-compaction
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We report on a 22-year-old male carrying a presumptive clinical diagnosis of Dubowitz-like phenotype who has been followed-up by cardiology for bicuspid aortic valve with ascending aorta and aortic root dilatation. Cardiac magnetic resonance imaging (CMRI) confirmed these findings, along with an incidental finding of left ventricular non-compaction (LVNC). Genetic workup revealed the diagnosis of 22q11.2 distal deletion encompassing the BCR gene. This is the first time LVNC has been reported in a patient with 22q11.2 distal deletion. (C) 2010 Wiley-Liss, Inc.
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