title: PCR-based detection of mosaicism in Turner syndrome patients.
abstract: To study the possible role of cryptic mosaicism in phenotypical variations of 45,X Turner syndrome, we analyzed low-level mosaicism by methods based on the polymerase chain reaction. For the detection of Y-chromosome-derived fragments, we used three Y-specific primer pairs representing the centromere, Yp11.3, and Yq12. None of the 18 patients with 45,X had Y-derived chromosomes. For the detection of X chromosome mosaicism, we employed a novel modified HUMARA (human androgen receptor) assay, which proved to be a sensitive method with a detection limit as low as 1 in 960 cells. Using this assay, we detected low frequency cryptic X chromosome mosaicism in 2 of 18 cytogenetically 45,X patients.
authors.affiliation: Department of Pediatrics, Kyoto University Hospital, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Yorifuji
authors.forename: J
authors.initials: J
authors.lastname: Muroi
authors.forename: M
authors.initials: M
authors.lastname: Kawai
authors.forename: H
authors.initials: H
authors.lastname: Sasaki
authors.forename: T
authors.initials: T
authors.lastname: Momoi
authors.forename: K
authors.initials: K
authors.lastname: Furusho
mesh_terms: D002874:Chromosome Mapping; D017931:DNA Primers; D005260:Female; D006801:Humans; D008297:Male; D009030:Mosaicism; D016133:Polymerase Chain Reaction; D011944:Receptors, Androgen / Q000235:genetics; D012680:Sensitivity and Specificity; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D017931:DNA Primers; D011944:Receptors, Androgen