دوره 8، شماره 1 - ( 12-1397 )                   جلد 8 شماره 1 صفحات 73-68 | برگشت به فهرست نسخه ها

XML Print

Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
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. J Emerg Health Care 2019; 8 (1) :68-73
URL: http://intjmi.com/article-1-373-fa.html
1q21.1 Microdeletion and Microduplication in a Patient with Coarctation of Aorta, Seizure and Dismorphic Features. . 1397; 8 (1) :68-73

URL: http://intjmi.com/article-1-373-fa.html

1q21.1 Microdeletion and Microduplication in a Patient with Coarctation of Aorta, Seizure and Dismorphic Features
چکیده:   (6455 مشاهده)
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.
     
نوع مطالعه: گزارش مورد | موضوع مقاله: عمومى
ارسال نظر درباره این مقاله : نام کاربری یا پست الکترونیک شما:
CAPTCHA
بازنشر اطلاعات
Creative Commons License این مقاله تحت شرایط Creative Commons Attribution-NonCommercial 4.0 International License قابل بازنشر است.