A familial X/Y translocation in a boy with ichthyosis, hypogonadism and mental retardation |
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| Authors: | C Metaxotou D Ikkos P Panagiotopoulou M Alevizaki A Mavrou C Tsenghi N Matsaniotis |
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| Institution: | 1st Department of Pediatrics of Athens University and Department of Endocrinology and Nuclear Medicine, "Evangelismos" Hospital, Athens, Greece |
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| Abstract: | 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;ql 1). Thus the son is nullisomic for the region Xp22 → 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. |
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| Keywords: | Steroid sulfatase locus X-linked ichthyosis X/Y translocation |
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