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Title

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

Year: 1393
COI: JR_IJRM-12-5_008
Language: EnglishView: 255
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Authors

Mohammadreza Dehghani - Department of Molecular Medicine, University of Pavia, Pavia, Italy..Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Elena Rossi - Department of Molecular Medicine, University of Pavia, Pavia, Italy
Annalisa Vetro - Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
Gianni Russo - Department of Pediatrics, Endocrine Unit, University Vita-Salute, San Raffaele Hospital, 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). ArrayComparative Genomic Hybridization (Array-CGH) revealed an unbalanced rearrangement resulting in the deletion of the distal Xp and the duplication of theproximal 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 dicentricone 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 genitaliaambiguity.

Keywords:

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

Paper COI Code

This Paper COI Code is JR_IJRM-12-5_008. Also You can use the following address to link to this article. This link is permanent and is used as an article registration confirmation in the Civilica reference:

https://civilica.com/doc/489016/

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Dehghani, Mohammadreza and Rossi, Elena and Vetro, Annalisa and Russo, Gianni,1393,A newborn with ambiguous genitalia and a complex X;Y rearrangement,https://civilica.com/doc/489016

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Type of center: علوم پزشکی
Paper count: 2,943
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