%0 Journal Article
%T MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis
%A Anna Dabkowska-Huc
%A Piotr Skalba
%A Antoni Pyrkosz
%J Case Reports in Genetics
%D 2013
%I Hindawi Publishing Corporation
%R 10.1155/2013/105052
%X A combination of the congenital abnormalities, M¨¹llerian 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. 1. Background MURCS association is the combined occurrence of the following disorders: M¨¹llerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. Cervicothoracic somite dysplasia is described in Klippel-Feil syndrome (KFS). Changes in the relations in the base of the neck and head can lead to the development of Arnold-Chiari malformation (ACM). ACM is a congenital malformation of the central nervous system, traditionally defined as downward herniation of the cerebellar tonsils through the foramen magnum [1]. In our case, in addition to the typical features, the following abnormalities are unusual for MURCS association: right ovarian and Skenes gland agenesis, cubitus valgus with hyperextension and decreased range of motion at elbows, and changes in facial appearance [2¨C5]. MURCS girls are karyotypically female (46, XX). Various genetic defects have been described in the MURCS association so far, yet the unambiguous molecular basis of these disorders has not been established [6, 7]. The relationship of 5q35.1 duplication with characteristic features for the MURCS association is interesting. In the accessible literature, we have not found the connection of this chromosomal duplication of 5q35.1 with MURCS association. 2. Case History The 18-year-old patient was admitted to the Gynecological Endocrinology Department because of primary amenorrhea (Figure 1). Figure 1: The phenotype of the patient. Her height was 1.56£¿m, weight 66£¿kg, BMI 27£¿kg/m2, and occipitofrontal head circumference 59£¿cm (>97th percentile). She was born at term with
%U http://www.hindawi.com/journals/crig/2013/105052/