title: Study of X chromosome abnormality in XX males using bivariate flow karyotype analysis and flow sorted dot blots.
abstract: We have used bivariate flow karyotype analysis to quantify aberrant X chromosome size in 11 XX males. With one exception, the patients could be grouped into those with an X homologue difference greater than normal (Group A, n = 3) and into those whose X homologue difference could not be distinguished from female controls (Group B, n = 7). The range of sizes of the aberrant X chromosome in Y-sequence positive patients agrees with the variable nature of the X-Y interchange in these individuals as determined by the use of Y-specific DNA probes and Southern blotting analysis. In one patient it was possible to sort separately the normal and the X-Y interchanged homologues for dot blot analysis. The presence of Y sequences and an increased dose of the zinc finger gene, ZFY, were detected in the X-Y interchanged homologue. In preliminary studies of 5 male and 6 female controls, it was noted that a consistent difference between the two X homologues in females was found which could not be totally explained by errors of the fitting procedure. We suggest that this difference could be due to X inactivation and that the two X homologues in females might be distinguishable.
authors.affiliation: Department of Pathology, University of Cambridge, England.
authors.forename: N P
authors.initials: NP
authors.lastname: Carter
authors.forename: M E
authors.initials: ME
authors.lastname: Ferguson-Smith
authors.forename: N A
authors.initials: NA
authors.lastname: Affara
authors.forename: H
authors.initials: H
authors.lastname: Briggs
authors.forename: M A
authors.initials: MA
authors.lastname: Ferguson-Smith
mesh_terms: D001345:Autoradiography; D002458:Cell Fractionation; D014128:Chromomycin A3; D015342:DNA Probes; D005260:Female; D005434:Flow Cytometry; D006801:Humans; D015151:Immunoblotting; D007621:Karyotyping; D008297:Male; D009693:Nucleic Acid Hybridization; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome / Q000032:analysis*
chemical_list: D015342:DNA Probes; D014128:Chromomycin A3