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Keywords:

  • 45,X male;
  • ichthyosis;
  • mosaicism;
  • SRY gene;
  • X/Y translocation

Abstract

We report on a 45,X male with hydrocephaly, lobar holoprosencephaly and ichthyosis. In situ hybridization and molecular analysis have demonstrated the presence of a mosaic SRY-bearing derivative X chromosome that included Yp and heterochromatic Yq fragments. © 2008 Wiley-Liss, Inc.