Summary
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.
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Cooke, A., Gillard, E.F., Yates, J.R.W. et al. X Chromosome deletions detectable by flow cytometry in some patients with steroid sulphatase deficiency (X-linked ichthyosis). Hum Genet 79, 49–52 (1988). https://doi.org/10.1007/BF00291709
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DOI: https://doi.org/10.1007/BF00291709