Author/Editor		Kokalj-Vokač, N
Title		Submikroskopske kromosomske preureditve
Translated title		Submicroscopic chromosomal rearrangements
Type		članek
Source		Slov Pediatr
Vol. and No.		Letnik 7, št. Suppl 1
Publication year		2000
Volume		str. 104-6
Language		slo
Abstract		Developmental delay and/or mental retardation are common clinical indications for chromosomal studies. Mental retardation may be seen with or without associated dysmorphic features. In the last few years several syndromes have been observed that are the consequence of submicroscopic chromosomal anomalies, described as microdeletion syndromes. High concentrations of genes are located on terminal ends of the chromosomes. Recently much attention has been given to the detection of subtelomeric chromosome rearrangements in patients with idiopathic mental retardation. Mostly deletions of corresponding genes or critical regions are not detectable with high-resolution cytogenetics. Fluorescent in situ hybridization (FISH) using locus-specific DNA probes is the technology of choice for the detection of submicroscopic chromosome rearrangements.
Summary		Vzroki za različne oblike umske prizadetosti, ki je ali ni povezana z drugimi dismorfnimi znaki, so lahko kromosomske preureditve. V zadnjih letih ja bila odkrita povezava med različnimi sindromi in submikroskopskimi kromosomskimi preureditvami. Mednje sodijo mikrodelecijski sindromi, kjer gre za delecije specifičnih genov ali za primanjkljaj v določenem kritičnem kromosomskem področju. Opisani so tudi primeri umske zaostalosti s submikroskopskimi spremembami telomernih regij kromosomov, kjer je koncentracija genov največja. Odkrivanje mikrodelecij s klasično citogenetsko analizo ni možno in je navadno tudi pod ravnijo visokorazločevalne citogenetike. Odkrivanje submikroskopskih kromosomskih sprememb nam omogoča tehnologija fluorescenčne in situ hibridizacije (FISH) z uporabo lokusno specifičnih DNA sond, ki dosega ločljivost pod 2Mb DNA.
Descriptors		MENTAL RETARDATION CHROMOSOME DELETION CHILD TELOMERE IN SITU HYBRIDIZATION, FLUORESCENCE