Unique mosaic X/Y translocation/insertion in infant 45,X male

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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.

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