1.
Am J Med Genet A
; 146A(24): 3195-7, 2008 Dec 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19012335
RESUMO
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.