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

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

Izvornik
Southeastern European Medical Journal (2459-9484) 1 (2017), 1; 144-153

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, pregledni rad, znanstveni

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

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA