Use of primed in situ labeling (PRINS) for the detection of telomeric deletions associated with mental retardation

Rearrangements involving the telomeric regions of human chromosomes are oft en associated with mental retardation. These rearrangements. however, are d ifficult to detect using conventional cytogenetic techniques. We propose th e use of primed in situ (PRINS) labeling as an alternative to fluorescence in situ hybridization because it is very fast, reproducible, and simple to perform. Sixty-five children with unexplained mental retardation were studi ed using PRINS technology; two of them were shown to have a telomeric delet ion. Copyright (C) 2001 S. Karger AG, Basel.