AI Article Synopsis
- The report discusses a case of a 45,X male who has several medical conditions including hydrocephaly and lobar holoprosencephaly.
- The patient also exhibits ichthyosis, a skin condition that causes dryness and scaling.
- Genetic analysis revealed a mosaic chromosome with an SRY gene part, indicating a mix of X and Y chromosome characteristics.
Article 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.
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| http://dx.doi.org/10.1002/ajmg.a.32578 | DOI Listing |
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