SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser Syndrome

Cristina Gervasini * 1, Francesca Romana Grati* 2, Faustina Lalatta 3, Silvia Tabano 1, Barbara
Gentilin 3, Patrizia Colapietro 1, Simona De Toffol 2, Giada Frontino 4, Francesca Motta 4,
Silvia Maitz 3, Laura Bernardini 5, Bruno Dallapiccola 6, Luigi Fedele 4, Lidia Larizza 1 ,
Monica Miozzo§ 1

1 Medical Genetics, Department of Medicine, Surgery and Dentistry, Università degli Studi di
Milano, Italy;
2 Unit of Research and Development, Cytogenetics and Molecular Biology, TOMA
Advanced Biomedical Assays S.p.A., Busto Arsizio, Varese, Italy;
3 Clinical Genetic Unit, Department of Obstetrics and Pediatrics, Fondazione IRCCS
Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy;
4 Department of Obstetrics and Gynecology, Fondazione IRCCS Ospedale Maggiore
Policlinico, Mangiagalli e Regina Elena, Milano, Italy;
5 Ospedale Casa Sollievo della Sofferenza, IRCCS, San Giovanni Rotondo, Italy;
6 Ospedale Pediatrico Bambino Gesù, IRCCS, Roma, Italy;
* These authors contributed equally to the work

Partial duplication of the SHOX gene was detected in five MRKH patients and not in 53 healthy controls. The duplications were not overlapping.

Questo articolo è stato inserito il Thursday, July 15th, 2010, appartiene alla categoria News TOMA. Segui i nostri aggiornamenti con RSS 2.0 feed. Responses are currently closed, but you can trackback from your own site.