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
Author
Source
Journal of the Faculty of Medicine Baghdad
Issue
Vol. 58, Issue 4 (31 Dec. 2016), pp.392-396, 5 p.
Publisher
University of Baghdad Faculty of Medicine
Publication Date
2016-12-31
Country of Publication
Iraq
No. of Pages
5
Main Subjects
Abstract 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.
American Psychological Association (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
Modern Language Association (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
American Medical Association (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
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 395-396
Record ID
BIM-761057