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Etiology and the Genetic Basis of Intellectual Disability in the Pediatric Population (CROSBI ID 250559)

Prilog u časopisu | pregledni rad (znanstveni) | međunarodna recenzija

Tomac, Višnja ; Pušeljić, Silvija ; Škrlec, Ivana ; Anđelić, Mirna ; Kos, Martina ; Wagner, Jasenka Etiology and the Genetic Basis of Intellectual Disability in the Pediatric Population // Southeastern European medical journal, 1 (2017), 1; 144-153

Podaci o odgovornosti

Tomac, Višnja ; Pušeljić, Silvija ; Škrlec, Ivana ; Anđelić, Mirna ; Kos, Martina ; Wagner, Jasenka

engleski

Etiology and the Genetic Basis of Intellectual Disability in the Pediatric Population

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.

mental retardation ; intellectual disability ; etiology ; submicroscopic chromosome aberrations ; genes

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Podaci o izdanju

1 (1)

2017.

144-153

objavljeno

2459-9484

Povezanost rada

Biologija, Kliničke medicinske znanosti, Temeljne medicinske znanosti