A familial X/Y translocation in a boy with ichthyosis, hypogonadism and mental retardation
- 1 November 1983
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 24 (5) , 380-383
- https://doi.org/10.1111/j.1399-0004.1983.tb00089.x
Abstract
A 14-yr-old boy is described with hypogonadism, ichthyosis and mental retardation. His karyotype was 46,Y, der(X), t(X;) (p22;q11). His mother''s karyotype was 46,X, der(X), t(X;Y) (p22;q11). The son is nullisomic for the region Xp22 .fwdarw. pter and the mother is monosomic for the same region. The steroid sulfatase activity in this boy is discussed in relationship to the enzyme''s locus on the X chromosome and the manifestation of ichythyosis.Keywords
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