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 journalArticle

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.

Original languageEnglish
Pages (from-to)351-356
Number of pages6
JournalIranian Journal of Reproductive Medicine
Volume12
Issue number5
Publication statusPublished - Aug 13 2014

Fingerprint

Disorders of Sex Development
Y Chromosome
Y-Linked Genes
Sex Chromosomes
Genitalia
Comparative Genomic Hybridization
Centromere
Constitution and Bylaws
X Chromosome
Fluorescence In Situ Hybridization
Karyotype
Testis
Mammals
Chromosomes
Pregnancy

Keywords

  • 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

Cite this

Dehghani, M., Rossi, E., Vetro, A., Russo, G., Hashemian, Z., & Zuffardi, O. (2014). A newborn with ambiguous genitalia and a complex X;Y rearrangement. Iranian Journal of Reproductive Medicine, 12(5), 351-356.

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

In: Iranian Journal of Reproductive Medicine, Vol. 12, No. 5, 13.08.2014, p. 351-356.

Research output: Contribution to journalArticle

Dehghani, M, Rossi, E, Vetro, A, Russo, G, Hashemian, Z & Zuffardi, O 2014, 'A newborn with ambiguous genitalia and a complex X;Y rearrangement', Iranian Journal of Reproductive Medicine, vol. 12, no. 5, pp. 351-356.
Dehghani M, Rossi E, Vetro A, Russo G, Hashemian Z, Zuffardi O. A newborn with ambiguous genitalia and a complex X;Y rearrangement. Iranian Journal of Reproductive Medicine. 2014 Aug 13;12(5):351-356.
Dehghani, Mohammadreza ; Rossi, Elena ; Vetro, Annalisa ; Russo, Gianni ; Hashemian, Zahra ; Zuffardi, Orsetta. / A newborn with ambiguous genitalia and a complex X;Y rearrangement. In: Iranian Journal of Reproductive Medicine. 2014 ; Vol. 12, No. 5. pp. 351-356.
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