Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223.
A male child and his mother who are nullisomic and monosomic, respectively, for the distal portion of Xp because of an unbalanced X-Y translocation were tested for steroid sulfatase activity after clinical examination had yielded evidence for ichthyosis in the boy. Deficiency of steroid sulfatase was found in the male patient, while in his mother enzyme levels were in the heterozygous range. These results, based on cytogenetic evidence obtained with an elongation technique, indicate that the STS locus is at Xp 223.
D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D008297:Male; D012730:Sex Chromosomes; D043266:Steryl-Sulfatase; D013429:Sulfatases / Q000172:deficiency / Q000235:genetics*; D014178:Translocation, Genetic; D014960:X Chromosome
D013429:Sulfatases; D043266:Steryl-Sulfatase