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.