Etiology and the Genetic Basis of Intellectual Disability in the Pediatric Population
| Autor: | Tomac, Višnja, Pušeljić, Silvija, Škrlec, Ivana, Anđelić, Mirna, Kos, Martina, Wagner, Jasenka |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: | |
| Zdroj: | Southeastern European Medical Journal, Vol 1, Iss 1, Pp 144-153 (2017) Southeastern European Medical Journal : SEEMEDJ Volume 1 Issue 1 |
| ISSN: | 2459-9484 |
| Popis: | 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 but 25%-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 using new molecular genetics techniques (like chromosomal microarray and next generation sequencing), the rate of causes of ID/MR is increased and 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. |
| Databáze: | OpenAIRE |
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