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Iranian Journal of Reproductive Medicine
Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences of Yazd
ISSN: 1680-6433
EISSN: 2008-2177
Vol. 12, No. 5, 2014, pp. 351-356
Bioline Code: rm14049
Full paper language: English
Document type: Case Report
Document available free of charge

Iranian Journal of Reproductive Medicine, Vol. 12, No. 5, 2014, pp. 351-356

 en A newborn with ambiguous genitalia and a complex X;Y rearrangement
Dehghani, Mohammadreza; Rossi, Elena; Vetro, Annalisa; Russo, Gianni; Hashemian, Zahra & Zuffardi, Orsetta

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.

Keywords
Ambiguous genitalia; 46; XX testicular DSD; Inverted duplication and Xp terminal Deletion(Invdup del); Rearrangement; Array Comparative Genomic Hybridization; FISH

 
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Alternative site location: http://www.ijrm.ir

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