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  • Title: Screening for subtelomeric rearrangements using genetic markers in 70 patients with unexplained mental retardation.
    Author: Rooms L, Reyniers E, van Luijk R, Scheers S, Wauters J, Kooy RF.
    Journal: Ann Genet; 2004; 47(1):53-9. PubMed ID: 15050874.
    Abstract:
    Cryptic unbalanced rearrangements involving chromosome ends are a significant cause of idiopathic mental retardation. The most frequently used technique to screen for these subtle rearrangements is Multiprobe fluorescence in situ hybridization (FISH). As this is a labor-intensive technique, we used microsatellite genotyping to detect possible subtelomeric rearrangements in a study population. Out of the 70 patients we screened, three chromosomal rearrangements were detected: a deletion of marker D2S2986, a deletion of marker D7S594 and a deletion of marker D19S424. However, none of these aberrations appeared to be disease causing.
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