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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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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.[1]

References

  1. X chromosome deletions detectable by flow cytometry in some patients with steroid sulphatase deficiency (X-linked ichthyosis). Cooke, A., Gillard, E.F., Yates, J.R., Mitchell, M.J., Aitken, D.A., Weir, D.M., Affara, N.A., Ferguson-Smith, M.A. Hum. Genet. (1988) [Pubmed]
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