Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223 |
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| Authors: | L Tiepolo Orsetta Zuffardi M Fraccaro D di Natale L Gargantini C R Müller H H Ropers |
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| Institution: | (1) Istituto di Biologia Generale e Genetica Medica, Universitá di Payia, C.P. 217, I-27100 Pavia, Italy;(2) Clinica Pediatrica III, Universitá di Milano, Via G. B. Grassi, Milano, Italy;(3) Institut für Humangenetik und Anthropologie der Universität Freiburg, Albertstraße 11, D-7800 Freiburg, Federal Republic of Germany |
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| Abstract: | 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. |
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