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Case Reports
. 2008 Dec 15;146A(24):3195-7.
doi: 10.1002/ajmg.a.32578.

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

V B Chernykh  1 , S V Vyatkina, V G Antonenko, N V Shilova, T V Zolotukhina, L F Kurilo, A L Chukhrova, A V Polyakov
Affiliations
Case Reports

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

V B Chernykh et al. Am J Med Genet A. .

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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