title: Parental origin of the X chromosome, X chromosome mosaicism and screening for "hidden" Y chromosome in 45,X Turner syndrome ascertained cytogenetically.
abstract: Our study confirms the finding that about 85% of X chromosomes in Turner girls are maternally derived. A new observation is the detection of a high frequency of mosaicism (15%) in Turner girls who by cytogenetic analysis were thought to have a pure 45,X karyotype. DNA examination of the material was done by hybridization with digoxigenin labelled, non-radioactive probes, and PCR products for microsatellite analysis were run on polyacrylamide gels. We screened for the presence of "hidden" Y chromosome mosaicism, using the primers SRY, ZFY, DYZ3, DYZ1 and DYS132. Contrary to other reports using the PCR technique to unravel "hidden" Y chromosome mosaics, we did not find any positive cases. A precise technical protocol for these new techniques is given, and the advantages are discussed.
authors.affiliation: Cytogenetic Laboratory, Aarhus Psychiatric Hospital, Risskov, Denmark.
authors.forename: T
authors.initials: T
authors.lastname: Larsen
authors.forename: C H
authors.initials: CH
authors.lastname: Gravholt
authors.forename: A
authors.initials: A
authors.lastname: Tillebeck
authors.forename: H
authors.initials: H
authors.lastname: Larsen
authors.forename: M B
authors.initials: MB
authors.lastname: Jensen
authors.forename: J
authors.initials: J
authors.lastname: Nielsen
authors.forename: U
authors.initials: U
authors.lastname: Friedrich
mesh_terms: D002871:Chromosome Banding; D004247:DNA / Q000032:analysis; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009030:Mosaicism / Q000235:genetics; D016133:Polymerase Chain Reaction; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D004247:DNA