title: A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome.
abstract: The results of a cytogenetic and molecular reinvestigation of a series of 52 patients with Turner's syndrome are reported. No evidence of Y chromosome material was found among the patients with a 45,X constitution but two patients were found to have a cell line with a r(Y) chromosome which was previously thought to be a r(X). The parental origin of the single X in the 45,X patients was maternal in 69% and paternal in 31%, a similar ratio to that seen among spontaneously aborted 45,X conceptuses. This suggests that X-chromosome imprinting is not responsible for the two grossly different phenotypes associated with a 45,X chromosome constitution. Approximately half of the structurally abnormal X chromosomes were maternal in origin and half paternal. This observation is consistent with either a meiotic or post-zygotic mitotic origin and at variance with the predominantly paternal origin reported for autosome structural abnormalities.
authors.affiliation: Wessex Regional Genetics Laboratory, Salisbury General Infirmary, Wiltshire.
authors.forename: P A
authors.initials: PA
authors.lastname: Jacobs
authors.forename: P R
authors.initials: PR
authors.lastname: Betts
authors.forename: A E
authors.initials: AE
authors.lastname: Cockwell
authors.forename: J A
authors.initials: JA
authors.lastname: Crolla
authors.forename: M J
authors.initials: MJ
authors.lastname: Mackenzie
authors.forename: D O
authors.initials: DO
authors.lastname: Robinson
authors.forename: S A
authors.initials: SA
authors.lastname: Youings
mesh_terms: D000293:Adolescent; D000328:Adult; D000375:Aging; D015139:Blotting, Southern; D002460:Cell Line; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D004247:DNA / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D009693:Nucleic Acid Hybridization; D010290:Parents; D014424:Turner Syndrome / Q000235:genetics* / Q000473:pathology; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D004247:DNA