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We have isolated several cDNA clones from a lambda gt11 expression library by screening with antibodies prepared against the microsomal enzyme steroid sulfatase, which is deficient in classical X-chromosome-linked ichthyosis patients. One of these clones (p422) has been assigned by mapping with a somatic cell hybrid panel and by in situ hybridization to Xp22.3. Clone p422 therefore has a coincident localization with the previously identified locus for steroid sulfatase expression in the region of the X chromosome escaping from inactivation. Twelve steroid sulfatase-deficient patients, including eight cases of classical ichthyosis, were found to be deleted for genomic sequences detected by the clone.

Original publication




Journal article


Proc Natl Acad Sci U S A

Publication Date





4519 - 4523


Chromosome Deletion, Chromosome Mapping, DNA, DNA, Recombinant, Dosage Compensation, Genetic, Female, Humans, Ichthyosis, Male, Sex Chromosome Aberrations, Steryl-Sulfatase, Sulfatases, X Chromosome