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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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A further 46,XYp- female.

A 24-year-old female with a Swyer syndrome phenotype was found to have a 46,X,del (Y) ( p11) karyotype. This observation is consistent with the recently confirmed assignment of the testis-determining master gene to the deletion interval 1A of the Y ( Page et al., 1987). Otherwise, it illustrates the etiological heterogeneity of the Swyer phenotype and allows to emphasize the de novo origin of XYp-females.[1]

References

  1. A further 46,XYp- female. Rivera, H., Moller, M., Baltazar, L.M., Escalante-Herrera, A., Garcia-Cruz, D. Ann. Genet. (1988) [Pubmed]
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