title: Use of primed in situ labeling (PRINS) for the detection of telomeric deletions associated with mental retardation.
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.
authors.affiliation: Cytogenetics and Genetics Unit, Careggi Hospital, viale Morgagni 85, 50134 Florence, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Bonifacio
authors.forename: C
authors.initials: C
authors.lastname: Centrone
authors.forename: L
authors.initials: L
authors.lastname: Da Prato
authors.forename: M R
authors.initials: MR
authors.lastname: Scordo
authors.forename: M
authors.initials: M
authors.lastname: Estienne
authors.forename: F
authors.initials: F
authors.lastname: Torricelli
mesh_terms: D001483:Base Sequence; D002872:Chromosome Deletion; D017931:DNA Primers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D020161:Physical Chromosome Mapping / Q000379:methods*; D020401:Primed In Situ Labeling / Q000379:methods*; D012680:Sensitivity and Specificity; D019914:Taq Polymerase / Q000378:metabolism; D016615:Telomere / Q000235:genetics*; D013997:Time Factors
chemical_list: D017931:DNA Primers; D019914:Taq Polymerase