| Left ventricular non-compaction on MRI in a patient with 22q11.2 distal deletion. | |
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MedLine Citation:
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PMID: 20425839 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Shobhit Madan; Suneeta Madan-Khetarpal; Sang C Park; Urvashi Surti; Ariel L Bailey; Juliann McConnell; Sameh S Tadros |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 May |
Date Detail:
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Created Date: 2010-04-28 Completed Date: 2010-08-12 Revised Date: 2011-06-29 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 1295-9 Citation Subset: IM |
Copyright Information:
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Copyright 2010 Wiley-Liss, Inc. |
Affiliation:
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Department of Radiology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child, Preschool Chromosome Deletion* Chromosomes, Human, Pair 22 / genetics* Facies Heart Defects, Congenital / genetics* Heart Ventricles / abnormalities* Humans Magnetic Resonance Imaging* Male Oligonucleotide Array Sequence Analysis Young Adult |
| Comments/Corrections | |
Comment In:
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Am J Med Genet A. 2011 Mar;155A(3):662-3; author reply 664-5
[PMID:
21337687
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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