title: Steroid sulphatase levels in XX males, including observations on two affected cousins.
abstract: Quantitative assays of steroid sulphatase in XX males have shown that some individuals have two functional loci, and others only one. Two affected cousins, who cannot share the same X-chromosome, nevertheless have male levels of steroid sulphatase, suggesting functional abnormality of the X chromosome. The hypothesis is advanced that these and other unusual features of X-chromosome function in some XX males, could be explained if such cases were due to an autosomal mutation, exercising its effect by causing abnormal inactivation of a subterminal area of Xp which normally escapes the inactivation process.
authors.forename: P
authors.initials: P
authors.lastname: Pierella
authors.forename: I
authors.initials: I
authors.lastname: Craig
authors.forename: M
authors.initials: M
authors.lastname: Bobrow
authors.forename: A
authors.initials: A
authors.lastname: de la Chapelle
mesh_terms: D001192:Arylsulfatases / Q000032:analysis*; D005260:Female; D006801:Humans; D008297:Male; D012729:Sex Chromosome Aberrations; D012733:Sex Differentiation / Q000235:genetics*; D043266:Steryl-Sulfatase; D014960:X Chromosome
chemical_list: D001192:Arylsulfatases; D043266:Steryl-Sulfatase