X chromosome deletions detectable by flow cytometry in some patients with steroid sulphatase deficiency (X-linked ichthyosis).
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.
Cooke
A
A
Duncan Guthrie Institute of Medical Genetics, University of Glasgow, Yorkhill, UK.
Gillard
E F
EF
Yates
J R
JR
Mitchell
M J
MJ
Aitken
D A
DA
Weir
D M
DM
Affara
N A
NA
Ferguson-Smith
M A
MA
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
D004247:DNA; D013429:Sulfatases; D043266:Steryl-Sulfatase