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X/Y translocation in a family with X‐linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene

1988; Wiley; Volume: 34; Issue: 1 Linguagem: Inglês

10.1111/j.1399-0004.1988.tb02612.x

1399-0004

Andrea Ballabio, Giancarlo Parenti, Rosalba Carrozzo, Giovanni V. Coppa, L. Felici, Valeria Migliori, Margherita Silengo, P Franceschini, Generoso Andria,

interferon and immune responses

We describe a family with two male members showing an X/Y translocation (karyotype: 46, Y, der(X)t(X;Y)(p22;q11)). At physical examination both patients showed ichthyosis, mental retardation and dysmorphic features. Chondrodysplasia punctata and short stature were present in one case. Direct DNA analysis, using a steroid sulphatase cDNA probe, was performed in one patient, his mother and sister, both carriers of the translocation. We found that the translocated region of the Y chromosome includes the steroid sulphatase pseudogene. These results suggest that in our patients the X/Y translocation may be derived from a recombinational event between homologous regions located on the short arm of the X chromosome and the long arm of the Y chromosome. Clinical and molecular studies on the present family add further information for the construction of a tentative physical map of the distal Xp.