title: Sex chromosome analysis in Turner Syndrome by a pentaplex PCR assay.
abstract: In this study, we describe a pentaplex PCR to determine the parental origin of the X chromosome and the presence of mosaicism, via amplification of four polymorphic markers located along the X chromosome (DXS10011, DXS6807, HUMARA, DXS101) and the X-Y amelogenin marker, in 41 families having a daughter with Turner Syndrome. Our results confirmed the cytogenetic findings and we found that the parental origin of the single X chromosome to be maternal in 84% of cases.
authors.affiliation: Section of Legal Medicine, University of Bologna, 40126 Bologna, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Pelotti
authors.forename: C
authors.initials: C
authors.lastname: Bini
authors.forename: S
authors.initials: S
authors.lastname: Ceccardi
authors.forename: G
authors.initials: G
authors.lastname: Ferri
authors.forename: A
authors.initials: A
authors.lastname: Abbondanza
authors.forename: N A
authors.initials: NA
authors.lastname: Greggio
authors.forename: E
authors.initials: E
authors.lastname: Ponzano
authors.forename: L
authors.initials: L
authors.lastname: Caenazzo
mesh_terms: D000328:Adult; D053523:Amelogenin; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D003746:Dental Enamel Proteins / Q000235:genetics; D005190:Family; D005260:Female; D005819:Genetic Markers; D006801:Humans; D009030:Mosaicism; D016133:Polymerase Chain Reaction / Q000379:methods*; D011110:Polymorphism, Genetic; D012729:Sex Chromosome Aberrations; D014424:Turner Syndrome / Q000235:genetics*
chemical_list: D053523:Amelogenin; D003746:Dental Enamel Proteins; D005819:Genetic Markers