دورية أكاديمية
Etiology and the Genetic Basis of Intellectual Disability in the Pediatric Population
| العنوان: | Etiology and the Genetic Basis of Intellectual Disability in the Pediatric Population |
|---|---|
| المؤلفون: | Tomac, Višnja, Pušeljić, Silvija, Škrlec, Ivana, Anđelić, Mirna, Kos, Martina, Wagner, Jasenka |
| المصدر: | Southeastern European Medical Journal : SEEMEDJ ; ISSN 2459-9484 (Online) ; Volume 1 ; Issue 1 |
| بيانات النشر: | Faculty Of Medicine |
| سنة النشر: | 2017 |
| المجموعة: | Hrčak - Portal of scientific journals of Croatia / Portal znanstvenih časopisa Republike Hrvatske |
| مصطلحات موضوعية: | mental retardation, intellectual disability, etiology, submicroscopic chromosome aberrations, genes |
| الوصف: | Intellectual disability/mental retardation (ID/MR) is defined as incomplete mental and cognitive development present before the age of 18. There are number of pre-natal and post-natal risk factors that can cause ID/MR but25 %-50% of all have genetic causes. In the general population,the prevalence of ID/MR is about 2 %-3%. Use of standard cytogenetic methods analysis of chromosomes (GTG banding) and FISH (Fluorescent in Situ Hybridization) reveals only a small number of causes, but when usingnew molecular genetics techniques (like chromosomal microarray and next generation sequencing), the rate of causes of ID/MR is increasedand new candidate genes for ID/MR have been discovered. Establishing a diagnosis of ID/MR is important for the patient and it provides genetic counseling for parents. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| العلاقة: | https://hrcak.srce.hr/186760Test |
| الإتاحة: | https://doi.org/10.26332/seemedj.v1i1.28Test https://hrcak.srce.hr/186760Test https://hrcak.srce.hr/file/275413Test |
| حقوق: | info:eu-repo/semantics/openAccess ; SEEMEDJ is an Open Access journal. All content is made freely available. Users are allowed to copy and redistribute, and alter, transform, or build upon the material as long as they attribute the source in an appropriate manner. |
| رقم الانضمام: | edsbas.6F1AC7D |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |