Volume 12, Issue 5 (6-2014)                   IJRM 2014, 12(5): 351-0 | Back to browse issues page

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Dehghani M, Rossi E, Vetro A, Russo G, Hashemian Z, Zuffardi O. A newborn with ambiguous genitalia and a complex X;Y rearrangement. IJRM 2014; 12 (5) :351-0
URL: http://ijrm.ir/article-1-535-en.html
A newborn with ambiguous genitalia and a complex X;Y rearrangement
Mohammadreza Dehghani1 , Elena Rossi1 , Annalisa Vetro2 , Gianni Russo3 , Zahra Hashemian4 , Orsetta Zuffardi * 5
1- Department of Molecular Medicine, University of Pavia, Pavia, Italy
2- Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
3- Department of Pediatrics, Endocrine Unit, University Vita-Salute, San Raffaele Hospital, Italy
4- Shahid Sadoughi Hospital, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
5- Department of Molecular Medicine, University of Pavia, Pavia, Italy , zuffardi@unipv.it
Abstract:   (2685 Views)
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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Type of Study: Original Article |
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