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Paper
Title

1q21.1 Microdeletion and Microduplication in a Patient with Coarctation of Aorta, Seizure and Dismorphic Features

Year: 1398
COI: JR_INTJMI-8-1_007
Language: EnglishView: 134
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Authors

Ehsan Aghaei Moghadam - Department of cardiology, children’s medical center, Tehran University of Medical Science, Tehran, Iran
Mohammad Reza Mirzaaghayan - Department of cardiac surgery, children’s medical center, Tehran University of Medical Science, Tehran,Iran
Azin Ghamari - Growth and development research center, Tehran University of medical science, Tehran, Iran
Sima Amini - Department of cardiology, children’s medical center, Tehran University of Medical Science, Tehran, Iran

Abstract:

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.

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This Paper COI Code is JR_INTJMI-8-1_007. Also You can use the following address to link to this article. This link is permanent and is used as an article registration confirmation in the Civilica reference:

https://civilica.com/doc/992534/

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Aghaei Moghadam, Ehsan and Mirzaaghayan, Mohammad Reza and Ghamari, Azin and Amini, Sima,1398,1q21.1 Microdeletion and Microduplication in a Patient with Coarctation of Aorta, Seizure and Dismorphic Features,https://civilica.com/doc/992534

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Type of center: علوم پزشکی
Paper count: 8,117
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