Author(s): Raine J, Robertson ME, Malcolm S, Hoey H, Grant DB
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Abstract We report two siblings with 46XX hermaphroditism in whom we were unable to show the presence of Y specific DNA sequences using the DNA probes Y-190, GMGY-7, pHY2.1, pDP34, and 27a. We conclude that an autosomal or X chromosome gene mutation is the most likely mechanism of inheritance in this family with 46XX hermaphroditism.
This article was published in Arch Dis Child
and referenced in Journal of Genetic Syndromes & Gene Therapy