1q21.1 Microdeletion and Microduplication in a Patient with Coarctation of Aorta, Seizure and Dismorphic Features
سال انتشار: 1398
نوع سند: مقاله ژورنالی
زبان: انگلیسی
مشاهده: 297
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شناسه ملی سند علمی:
JR_INTJMI-8-1_007
تاریخ نمایه سازی: 3 اسفند 1398
چکیده مقاله:
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.
کلیدواژه ها:
نویسندگان
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