Abstract:
: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.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Cooke A,Gillard EF,Yates JR,Mitchell MJ,Aitken DA,Weir DM,Affara NA,Ferguson-Smith MAdoi
10.1007/BF00291709subject
Has Abstractpub_date
1988-05-01 00:00:00pages
49-52issue
1eissn
0340-6717issn
1432-1203journal_volume
79pub_type
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