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

Giu 8, 2015

Gervasini C1, Grati FR, Lalatta F, Tabano S, Gentilin B, Colapietro P, De Toffol S, Frontino G, Motta F, Maitz S, Bernardini L, Dallapiccola B, Fedele L, Larizza L, Miozzo M.
1Medical Genetics, Department of Medicine, Surgery and Dentistry, Università degli Studi di Milano, Italy.
Genet Med. 2010 Oct;12(10):634-40.

The Mayer-Rokitansky-Ku¨ster-Hauser syndrome is defined as congenital aplasia of mu¨llerian ducts derived structures in females with a normal female chromosomal and gonadal sex. Most cases with Mayer- Rokitansky-Ku¨ster-Hauser syndrome are sporadic, although familial cases have been reported. The genetic basis of Mayer-Rokitansky- Ku¨ster-Hauser syndrome is largely unknown and seems heterogeneous, and a small number of cases were found to have mutations in the WNT4 gene. The aim of this study was to identify possible recurrent submicroscopic imbalances in a cohort of familial and sporadic cases with Mayer-Rokitansky-Ku¨ster-Hauser syndrome.

Partial duplication of SHOX gene is found in some cases with both familial and sporadic Mayer-Rokitansky-Ku¨ster-Hauser type I syndrome. Genet Med 2010:12(10):634–640.

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