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

Mohammadreza Dehghani, Elena Rossi, Annalisa Vetro, Gianni Russo, Zahra Hashemian, Orsetta Zuffardi

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)351-356
Number of pages6
JournalIranian Journal of Reproductive Medicine
Issue number5
Publication statusPublished - Aug 13 2014


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

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynaecology


Dive into the research topics of 'A newborn with ambiguous genitalia and a complex X;Y rearrangement'. Together they form a unique fingerprint.

Cite this