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Case Reports in Genetics
Volume 2013, Article ID 105052, 4 pages
Case Report

MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis

1Department of Gynecological Endocrinology, Medical University of Silesia, Medykow 14, 40-752 Katowice, Poland
2Department of General and Molecular Biology and Genetics, Medical University of Silesia, Medykow 18, 40-752 Katowice, Poland

Received 27 November 2012; Accepted 16 January 2013

Academic Editors: A. DeWan, P. Saccucci, and A. Sazci

Copyright © 2013 Anna Dabkowska-Huc et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


A combination of the congenital abnormalities, Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia, is defined as the MURCS association. Various genetic defects have been described in the MURCS association so far, yet the unambiguous molecular basis of these disorders has not been established. We report the case of an 18-year-old woman who presented with primary amenorrhea, right kidney, Arnold-Chiari malformation, and Klippel-Feil syndrome. In addition, the patient showed the following unusual features: right ovarian and Skenes gland agenesis, cubitus valgus with hyperextension and decreased range of motion at elbows, and facial changes. Moreover, the performed DNA analysis showed interstitial duplication in chromosome 5 (5q35.1). In the duplicated region, there are genes whose function is not well known. It is thought that they have an influence on the early stages of development and their joining in the later period can lead to neoplastic disorders, especially leukemias.