MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis
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...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2013/105052 |
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| author | Anna Dabkowska-Huc Piotr Skalba Antoni Pyrkosz |
| author_facet | Anna Dabkowska-Huc Piotr Skalba Antoni Pyrkosz |
| author_sort | Anna Dabkowska-Huc |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-c1b2881ea73843cd99c3a1887ec20235 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-c1b2881ea73843cd99c3a1887ec202352025-02-03T06:10:57ZengWileyCase Reports in Genetics2090-65442090-65522013-01-01201310.1155/2013/105052105052MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian AgenesisAnna Dabkowska-Huc0Piotr Skalba1Antoni Pyrkosz2Department of Gynecological Endocrinology, Medical University of Silesia, Medykow 14, 40-752 Katowice, PolandDepartment of Gynecological Endocrinology, Medical University of Silesia, Medykow 14, 40-752 Katowice, PolandDepartment of General and Molecular Biology and Genetics, Medical University of Silesia, Medykow 18, 40-752 Katowice, PolandA 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.http://dx.doi.org/10.1155/2013/105052 |
| spellingShingle | Anna Dabkowska-Huc Piotr Skalba Antoni Pyrkosz MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis Case Reports in Genetics |
| title | MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis |
| title_full | MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis |
| title_fullStr | MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis |
| title_full_unstemmed | MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis |
| title_short | MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis |
| title_sort | murcs association with partial duplication of the distal long chromosome 5 and unilateral ovarian agenesis |
| url | http://dx.doi.org/10.1155/2013/105052 |
| work_keys_str_mv | AT annadabkowskahuc murcsassociationwithpartialduplicationofthedistallongchromosome5andunilateralovarianagenesis AT piotrskalba murcsassociationwithpartialduplicationofthedistallongchromosome5andunilateralovarianagenesis AT antonipyrkosz murcsassociationwithpartialduplicationofthedistallongchromosome5andunilateralovarianagenesis |