title: X chromosome deletions detectable by flow cytometry in some patients with steroid sulphatase deficiency (X-linked ichthyosis).
abstract: The X chromosomes of individuals with isolated steroid sulphatase deficiency (X-linked ichthyosis) from ten families were studied by flow karyotype analysis. In four of the families, a small but significant reduction in the relative fluorescence of the X chromosome was detected consistent with a deletion ranging from 1.2%-3.4% of the X and amounting to a DNA loss of 1.9-5.2 million base pairs. In the remaining six families, three of which demonstrated a molecular deletion of the DNA sequence GMGX9 (DXS237), the relative fluorescence of the X chromosomes was indistinguishable from normal. The phenotypes of those with X deletions detectable by flow cytometry were similar to those of patients without such deletions.
authors.affiliation: Duncan Guthrie Institute of Medical Genetics, University of Glasgow, Yorkhill, UK.
authors.forename: A
authors.initials: A
authors.lastname: Cooke
authors.forename: E F
authors.initials: EF
authors.lastname: Gillard
authors.forename: J R
authors.initials: JR
authors.lastname: Yates
authors.forename: M J
authors.initials: MJ
authors.lastname: Mitchell
authors.forename: D A
authors.initials: DA
authors.lastname: Aitken
authors.forename: D M
authors.initials: DM
authors.lastname: Weir
authors.forename: N A
authors.initials: NA
authors.lastname: Affara
authors.forename: M A
authors.initials: MA
authors.lastname: Ferguson-Smith
mesh_terms: D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics; D005260:Female; D005434:Flow Cytometry; D008040:Genetic Linkage; D006801:Humans; D007057:Ichthyosis / Q000201:enzymology / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009693:Nucleic Acid Hybridization; D010641:Phenotype; D043266:Steryl-Sulfatase; D013429:Sulfatases / Q000172:deficiency*; D014960:X Chromosome
chemical_list: D004247:DNA; D013429:Sulfatases; D043266:Steryl-Sulfatase