Psychomotor delay, dysmorphsim and epilepsy with underlying genetic etiology : a case report of fis child with a genetically confimed diagnosis of Angelman syndrome on a hospital-based setting in Iraq
المؤلف
المصدر
Journal of the Faculty of Medicine Baghdad
العدد
المجلد 58، العدد 4 (31 ديسمبر/كانون الأول 2016)، ص ص. 392-396، 5ص.
الناشر
تاريخ النشر
2016-12-31
دولة النشر
العراق
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
In this case report we discuss essential issue to be considered with regard to the clinical genetic testing in the epilepsies.
The identification of genes that influence risk for the epilepsies has extremely important implications for both research and clinical practice.
In a research context, information obtained may lead to the development of new treatments targeted to specific mechanisms, or even to ways of preventing epileptogenesis.
In clinical practice, the use of genetic information can either clarify the diagnosis in people already known or suspected to have epilepsy (diagnostic testing), or to predict onset of epilepsy in people at risk of developing epilepsy because of a family history (predictive testing).
This 8-year old girl presented because of rapid regression in the cognitive function and had disturbed consciousness which started few weeks before admission.
History of delayed milestones, epilepsy, subtle facial dysmorphology, ataxic gait and happy demeanor collectively raised suspicion of genetic/metabolic disorder.
Genetic study discovered a deletion involving the maternally derived chromosome 15q11 region and this deletion is associated with Angelman Syndrome.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
al-Sadi, Nibal W.. 2016. Psychomotor delay, dysmorphsim and epilepsy with underlying genetic etiology : a case report of fis child with a genetically confimed diagnosis of Angelman syndrome on a hospital-based setting in Iraq. Journal of the Faculty of Medicine Baghdad،Vol. 58, no. 4, pp.392-396.
https://search.emarefa.net/detail/BIM-761057
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
al-Sadi, Nibal W.. Psychomotor delay, dysmorphsim and epilepsy with underlying genetic etiology : a case report of fis child with a genetically confimed diagnosis of Angelman syndrome on a hospital-based setting in Iraq. Journal of the Faculty of Medicine Baghdad Vol. 58, no. 4 (2016), pp.392-396.
https://search.emarefa.net/detail/BIM-761057
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
al-Sadi, Nibal W.. Psychomotor delay, dysmorphsim and epilepsy with underlying genetic etiology : a case report of fis child with a genetically confimed diagnosis of Angelman syndrome on a hospital-based setting in Iraq. Journal of the Faculty of Medicine Baghdad. 2016. Vol. 58, no. 4, pp.392-396.
https://search.emarefa.net/detail/BIM-761057
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references : p. 395-396
رقم السجل
BIM-761057
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر