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

S. Bonifacio, C. Centrone, L. Da Prato, M. R. Scordo, M. Estienne, Francesca Torricelli

Research output: Contribution to journalArticlepeer-review

Abstract

Rearrangements involving the telomeric regions of human chromosomes are often associated with mental retardation. These rearrangements, however, are difficult to detect using conventional cytogenetic techniques. We propose the 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 studied using PRINS technology; two of them were shown to have a telomeric deletion.

Original languageEnglish
Pages (from-to)16-18
Number of pages3
JournalCytogenetics and Cell Genetics
Volume93
Issue number1-2
Publication statusPublished - 2001

ASJC Scopus subject areas

  • Cell Biology
  • Genetics

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