Familial X/Y translocations associated with variable sexual phenotype

Sharp, A., Kusz, K., Jaruzelska, J., Szarras-Czapnik, M., Wolski, J. and Jacobs, P. (2004) Familial X/Y translocations associated with variable sexual phenotype. Journal of Medical Genetics, 41 (6), 440-444. (doi:10.1136/jmg.2003.017624).

Abstract

True hermaphroditism, defined clinically as the presence of both male and female gonadal tissue in the same individual usually accompanied by ambiguous genitalia, is a genetically heterogeneous condition.1–3 Less than 10% of true hermaphrodites with an apparent 46,XX constitution are SRY-positive, usually resulting from translocation between Xp and Yp.4–7 Previously we described two true hermaphrodites (AK and PG) of Polish origin, both of whom carry X/Y translocations with SRY translocated onto distal Xp.6 Here, we show that the same X/Y translocation is also carried by fertile male and female relatives of the hermaphrodite probands, and identify varying sexual phenotype in individuals with the same chromosome abnormality.

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