Summary
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 Xp223.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Hameister, H., Wolff, G., Lauritzen, C. H., Lehmann, W. O., Hauser, A., Ropers, H. H.: Clinical and biochemical investigations on patients with partial deficiency of placental steroid sulfatase. Hum. Genet. 46, 199–207 (1979)
Lyon, M. F.: Mechanism and evolutionary origins of variable X-chromosome activity in mammals. Proc. R. Soc. Lond. [Biol.] 187, 243–268 (1974)
Mohandas, T., Shapiro, L. J., Sparkes, R. S., Sparkes, M. C.: Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: Implications for a non-inactivated region on the short arm of the human X-chromosome. Proc. Natl. Acad. Sci. USA 76, 5779–5783 (1979)
Müller, C. R., Westerveld, A., Migl, B., Franke, W., Ropers, H.-H.: Regional asignment of the gene locus for steroid sulfatase. Hum. Genet. 54, 201–204 (1980a)
Müller, C. R., Migl, B., Traupe, H., Ropers, H. H.: X-linked steroid sulfatase: Evidence for different gene dosage in males and females. Hum. Genet. 54, 197–199 (1980b)
Summit, R. L., Tipton, R. E., Wilroy, R. S., Jr., Martens, P. R., Phelan, J. P.: X-autosome translocations: A review. Birth Defects 14, 219–247 (1978)
Tiepolo, L., Zuffardi, O., Rodewald, A.: Nullisomy for the distal portion of Xp in a male child with a X/Y translocation. Hum. Genet. 39, 277–281 (1977)
Viegas-Pequignot, E., Dutrillaux, B.: Une méthode simple pour obtenir des prophases et des prométaphases. Ann. Genet. 21, 122–125 (1978)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Tiepolo, L., Zuffardi, O., Fraccaro, M. et al. Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. Hum Genet 54, 205–206 (1980). https://doi.org/10.1007/BF00278973
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00278973