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  • Submikroskopske kromosomske preureditve = Submicroscopic chromosomal rearrangements
    Kokalj-Vokač, Nadja
    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 correspondinggenes or critical regions are not detectable with high-resolutioncytogenetics. Fluorescent in situ hybridization (FISH) using locus-specific DNA probes is the technology of choice for the detection of submicroscopic chromosome rearrangements.
    Source: Slovenska pediatrija : revija Združenja pediatrov Slovenije in Združenja specialistov šolske in visokošolske medicine Slovenije. - ISSN 1318-4423 (Letn. 7, supl. 1, 2000, str. 104-106)
    Type of material - conference contribution
    Publish date - 2000
    Language - slovenian
    COBISS.SI-ID - 11341017

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