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© Research
Publication : Human genetics

A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Human genetics - 01 Sep 1992

McElreavey K, Rappaport R, Vilain E, Abbas N, Richaud F, Lortat-Jacob S, Berger R, Le Coniat M, Boucekkine C, Kucheria K

Link to Pubmed [PMID] – 1427767

Hum. Genet. 1992 Sep-Oct;90(1-2):121-5

A total of 30 cases of 46,XX true hermaphroditism was analysed for Y-DNA sequences including the recently cloned gene for male testis-determination SRY. In 3 cases, a portion of the Y chromosome including SRY was present and, in 2 cases, was localised, to Xp22 by in situ hybridisation. Since previous studies have shown that the majority of XX males are generated by an X-Y chromosomal interchange, the Xp22 position of the Yp material suggests that certain cases of hermaphroditism can arise by the same meiotic event. The phenotype in the 3 SRY-positive cases may be caused by X-inactivation resulting in somatic mosaicism of testis-determining factor expression giving rise to both testicular and ovarian tissues. Autosomal or X-linked mutation(s) elsewhere in the sex-determining pathway may explain the phenotype observed in the remaining 27 SRY-negative cases.

http://www.ncbi.nlm.nih.gov/pubmed/1427767