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MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis
Joint Authors
Dabkowska-Huc, Anna
Skalba, Piotr
Pyrkosz, Antoni
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-02-17
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Dabkowska-Huc, Anna& Skalba, Piotr& Pyrkosz, Antoni. 2013. MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis. Case Reports in Genetics،Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-446734
Modern Language Association (MLA)
Dabkowska-Huc, Anna…[et al.]. MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis. Case Reports in Genetics No. 2013 (2013), pp.1-4.
https://search.emarefa.net/detail/BIM-446734
American Medical Association (AMA)
Dabkowska-Huc, Anna& Skalba, Piotr& Pyrkosz, Antoni. MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis. Case Reports in Genetics. 2013. Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-446734
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-446734