Author/Authors :
Dehghani، Mohammadreza نويسنده Department of Molecular Medicine, University of Pavia, Pavia, Italy , , Rossi، Elena نويسنده Department of Molecular Medicine, University of Pavia, Pavia, Italy , , Vetro، Annalisa نويسنده Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy , , Russo، Gianni نويسنده Department of Pediatrics, Endocrine Unit, University Vita-Salute, San Raffaele Hospital, Italy , , Hashemian، Zahra نويسنده Shahid Sadoughi Hospital, Shahid Sadoughi University of Medical Sciences, Yazd, Iran , , Zuffardi، Orsetta نويسنده Department of Molecular Medicine, University of Pavia, Pavia, Italy ,
Abstract :
Background: 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 Comparative Genomic Hybridization (Array-CGH) 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 devolopment of testes although it is not clear the reason for the genitalia ambiguity.
