A newborn with ambiguous genitalia and a complex X; Y rearrangement

Dehghani, M.; Elena, R.; Analisa, V.; Russo, G.; Hashemian, Z.; Zoufardi, O.
June 2014
Iranian Journal of Reproductive Medicine;Jun2014 Supplement, Vol. 12, p82
Academic Journal
Introduction: In most mammals, sex is determined at the beginning of gestation by the constitution of the sex chromosomes, XY in males and XX in females. Case: Here we report an interesting case characterized by ambiguous genitalia and ovotestis in a newborn carrying an apparently female karyotype (46 XX). Array CGH-analysis revealed an unbalanced rearrangement resulting in the deletion of the distal Xp and the duplication of the proximal Xp contiguous region with presence of the Y chromosome from Ypter to Yq11. Fluorescent in situ hybridization (FISH) showed that this portion of the Y was translocated to the tip of the abnormal X and that the duplicated portion of chromosome X was inverted. Altogether, the abnormal chromosome was a dicentric one with the centromere of the Y chromosome apparently inactivated. Conclusion: The presence within the translocated Y chromosome of the SRY gene explains the development of testes although it is not clear the reason for the genitalia ambiguity.


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