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:: Volume 8, Issue 1 (3-2019) ::
Int J Med Invest 2019, 8(1): 68-73 Back to browse issues page
1q21.1 Microdeletion and Microduplication in a Patient with Coarctation of Aorta, Seizure and Dismorphic Features
Ehsan Aghaei Moghadam *, Mohammad Reza Mirzaaghayan, Azin Ghamari, Sima Amini
Department of cardiology, children’s medical center, Tehran University of Medical Science, Tehran, Iran
Abstract:   (1938 Views)
1q21.1 duplication is a rare copy number variant accompanied with multiple congenital malformations, including developmental delay, autism spectrum disorder, dysmorphic features and congenital heart anomalies. The present study described an Iranian 6-month-old infant with coarctation of aorta, seizure and dismorphic features. The parents and the sibling of the patient, were physically and psychologically normal. Whole genome oligo array CGH revealed a deletion 314.2 Kb on 1q21.1q21.1 and duplication of 1.25 Mb on 1q21.1q21.2. Up to date, few evidence are available for the cardiac abnormalities of the patients with micro deletion and microduplication on 1q21 have also coarctation of aorta.
Keywords: 1q21.1 Deletion, 1q21.1 Duplication, Congenital Heart Disease, Coarctation Of Aorta
Full-Text [PDF 543 kb]   (352 Downloads)    
Type of Study: case report | Subject: General
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Moghadam E A, Mirzaaghayan M R, Ghamari A, Amini S. 1q21.1 Microdeletion and Microduplication in a Patient with Coarctation of Aorta, Seizure and Dismorphic Features. Int J Med Invest. 2019; 8 (1) :68-73
URL: http://intjmi.com/article-1-373-en.html

Volume 8, Issue 1 (3-2019) Back to browse issues page
International Journal of Medical Investigation
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