title: A newborn with ambiguous genitalia and a complex X;Y rearrangement.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Molecular Medicine, University of Pavia, Pavia, Italy. ; Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
authors.forename: Mohammadreza
authors.initials: M
authors.lastname: Dehghani
authors.affiliation: Department of Molecular Medicine, University of Pavia, Pavia, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Rossi
authors.affiliation: Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
authors.forename: Annalisa
authors.initials: A
authors.lastname: Vetro
authors.affiliation: Department of Pediatrics, Endocrine Unit, University Vita-Salute, San Raffaele Hospital, Italy.
authors.forename: Gianni
authors.initials: G
authors.lastname: Russo
authors.affiliation: Shahid Sadoughi Hospital, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
authors.forename: Zahra
authors.initials: Z
authors.lastname: Hashemian
authors.affiliation: Department of Molecular Medicine, University of Pavia, Pavia, Italy.
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
keywords: 46; Ambiguous genitalia; Array Comparative Genomic Hybridization; FISH; Inverted duplication and Xp terminal Deletion(Invdup del); Rearrangement; XX testicular DSD