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X Chromosome deletions detectable by flow cytometry in some patients with steroid sulphatase deficiency (X-linked ichthyosis)

✍ Scribed by A. Cooke; E. F. Gillard; J. R. W. Yates; M. J. Mitchell; D. A. Aitken; D. M. Weir; N. A. Affara; M. A. Ferguson-Smith

Publisher: Springer
Year: 1988
Tongue: English
Weight: 417 KB
Volume: 79
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00291709

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✦ Synopsis

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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