Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

• Published in: European journal of human genetics : EJHG Vol. 23; no. 8; pp. 1025 - 1032
• Main Authors: Vetro, Annalisa, Dehghani, Mohammad Reza, Kraoua, Lilia, Giorda, Roberto, Beri, Silvana, Cardarelli, Laura, Merico, Maurizio, Manolakos, Emmanouil, Parada-Bustamante, Alexis, Castro, Andrea, Radi, Orietta, Camerino, Giovanna, Brusco, Alfredo, Sabaghian, Marjan, Sofocleous, Crystalena, Forzano, Francesca, Palumbo, Pietro, Palumbo, Orazio, Calvano, Savino, Zelante, Leopoldo, Grammatico, Paola, Giglio, Sabrina, Basly, Mohamed, Chaabouni, Myriam, Carella, Massimo, Russo, Gianni, Bonaglia, Maria Clara, Zuffardi, Orsetta
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.08.2015
• Subjects: 46, XX Disorders of Sex Development - genetics; 46, XX Disorders of Sex Development - physiopathology; Adult; Breakpoints; Chromatin; Chromosome Breakpoints; Chromosome rearrangements; Chromosome translocations; Chromosomes; Chromosomes, Human, Pair 17 - genetics; Chromosomes, Human, X - genetics; Congenital diseases; Cytogenetics; Deserts; Female; Genetic disorders; Hospitals; Humans; Infant, Newborn; Laboratories; Male; Mammals; Medicine; Phenotypes; Sox9 protein; SOX9 Transcription Factor - genetics; SOXB1 Transcription Factors - genetics; Testis - growth & development; Testis - pathology; Translocation, Genetic - genetics; Greece; Italy; Iran; Tunisia

Duplications in the ~2 Mb desert region upstream of SOX9 at 17q24.3 may result in familial 46,XX disorders of sex development (DSD) without any effects on the XY background. A balanced translocation with its breakpoint falling within the same region has also been described in one XX DSD subject. We...