title: PCR-based study of the presence of Y-chromosome sequences in patients with Ullrich-Turner syndrome.
abstract: The presence of Y chromosome sequences in Ullrich-Turner syndrome (UTS) patients has been suggested in previous work. Karyotype analysis estimated at about 60% of patients with a 45, X constitution and molecular analysis (Southern blot analysis with several Y chromosome probes and PCR of specific sequences) identified the presence of Y chromosome material in about 40% of 45, X patients. We have developed a very sensitive, PCR-based method to detect Y specific sequences in DNA from UTS patients. This protocol permits the detection of a single cell carrying a Y sequence among 10(5) Y-negative cells. We studied 18 UTS patients with 4 Y-specific sequences. In 11 patients we detected a positive amplification for at least one Y sequence. The existence of a simple and sensitive method for the detection of Y sequences has important implications for UTS patients, in view of the risk for some of the females carrying Y-chromosome material of developing gonadoblastoma and virilization. Additionally, some of the UTS associated phenotypes, such as renal anomalies, could be correlated with the presence of Y chromosome specific sequences.
authors.affiliation: Laboratorio de Genética Molecular (Servicio de Immunología, Hospital Central de Asturias, Oviedo, Spain.
authors.forename: E
authors.initials: E
authors.lastname: Coto
authors.forename: J F
authors.initials: JF
authors.lastname: Toral
authors.forename: M J
authors.initials: MJ
authors.lastname: Menéndez
authors.forename: I
authors.initials: I
authors.lastname: Hernando
authors.forename: A
authors.initials: A
authors.lastname: Plasencia
authors.forename: A
authors.initials: A
authors.lastname: Benavides
authors.forename: C
authors.initials: C
authors.lastname: López-Larrea
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D017931:DNA Primers; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D014424:Turner Syndrome / Q000235:genetics*; D014998:Y Chromosome
chemical_list: D017931:DNA Primers