Screening for subtelomeric rearrangements using genetic markers in 70 patients with unexplained mental retardation |
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Authors: | Rooms Liesbeth Reyniers Edwin van Luijk Rob Scheers Stefan Wauters Jan Kooy R Frank |
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Affiliation: | Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium. |
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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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Keywords: | Mental retardation Subtelomeric rearrangements Microsatellite genotyping Polymorphisms |
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