title: Screening for subtelomeric rearrangements using genetic markers in 70 patients with unexplained mental retardation.
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.
authors.affiliation: Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium.
authors.forename: Liesbeth
authors.initials: L
authors.lastname: Rooms
authors.forename: Edwin
authors.initials: E
authors.lastname: Reyniers
authors.forename: Rob
authors.initials: R
authors.lastname: van Luijk
authors.forename: Stefan
authors.initials: S
authors.lastname: Scheers
authors.forename: Jan
authors.initials: J
authors.lastname: Wauters
authors.forename: R Frank
authors.initials: RF
authors.lastname: Kooy
mesh_terms: D002869:Chromosome Aberrations; D005819:Genetic Markers; D005820:Genetic Testing; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D018895:Microsatellite Repeats; D011110:Polymorphism, Genetic; D016615:Telomere
chemical_list: D005819:Genetic Markers