How to cite this article: Chernykh VB, Vyatkina SV, Antonenko VG, Shilova NV, Zolotukhina TV, Kurilo LF, Chukhrova AL, Polyakov AV. 2008. Unique mosaic X/Y translocation/insertion in infant 45,X male. Am J Med Genet Part A 146A:3195–3197.
Unique mosaic X/Y translocation/insertion in infant 45,X male†
Version of Record online: 14 NOV 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 24, pages 3195–3197, 15 December 2008
How to Cite
Chernykh, V.B., Vyatkina, S.V., Antonenko, V.G., Shilova, N.V., Zolotukhina, T.V., Kurilo, L.F., Chukhrova, A.L. and Polyakov, A.V. (2008), Unique mosaic X/Y translocation/insertion in infant 45,X male. Am. J. Med. Genet., 146A: 3195–3197. doi: 10.1002/ajmg.a.32578
- Issue online: 21 NOV 2008
- Version of Record online: 14 NOV 2008
- Manuscript Accepted: 1 AUG 2008
- Manuscript Received: 7 FEB 2007
- 45,X male;
- SRY gene;
- X/Y translocation
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.