%0 Journal Article
%T Etiology and the Genetic Basis of Intellectual Disability in the Pediatric Population
%A An£¿eli£¿
%A Mirna
%A Kos
%A Martina
%A Pu£¿elji£¿
%A Silvija
%A Tomac
%A Vi£¿nja
%A Wagner
%A Jasenka
%A £¿krlec
%A Ivana
%J -
%D 2017
%R 10.26332/seemedj.v1i1.28
%X Sa£¿etak 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
%K mental retardation
%K intellectual disability
%K etiology
%K submicroscopic chromosome aberrations
%K genes
%U https://hrcak.srce.hr/index.php?show=clanak&id_clanak_jezik=275413