Metaxotou C, Ikkos D, Panagiotopoulou P, Alevizaki M, Mavrou A, Tsenghi C, Matsaniotis N
Clin Genet. 1983 Nov;24(5):380-3. doi: 10.1111/j.1399-0004.1983.tb00089.x.
A 14-year-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). Thus the son is nullisomic for the region Xp22 leads to 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 ichthyosis.
一名14岁男孩被描述患有性腺功能减退、鱼鳞病和智力发育迟缓。他的核型为46，Y，der(X)，t(X;)(p22;q11)。他母亲的核型为46，X，der(X)，t(X;Y)(p22;q11)。因此，儿子在Xp22至pter区域缺失，母亲在同一区域为单体。本文讨论了该男孩的类固醇硫酸酯酶活性与该酶在X染色体上的基因座以及鱼鳞病表现之间的关系。
