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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Dell’Edera, Domenico Allegretti, Arianna Ventura, Mario Mercuri, Ludovica Mitidieri, Angela Cuscianna, Giacinto Epifania, Annunziata Anna Morizio, Elisena Alfonsi, Melissa Guanciali-Franchi, Paolo |
| Abstract | Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (Online Mendelian Inheritance in Man [OMIM] #277000) is a congenital condition characterized by the total or partial agenesis of vagina and uterus. Agenesis can be isolated (MRKH 1) or associated with other renal, vertebral or cardiac defects (MRKH 2). Case presentation In this paper, we report a case of a Caucasian patient showing the clinical signs associated with MRKH. Array-based comparative genomic hybridization (a-CGH) analysis revealed a microduplication of approximately 3.01 megabases (Mb) located on the long arm of chromosome 22 (22q11.21). Microduplications affecting the 22q11.21 region have been shown to be associated with MRKH syndrome and Müllerian aplasia. The phenotype of patients with 22q11.2 duplication (OMIM #608363) appears extremely variable, ranging from apparently normal to mild learning difficulties or with multiple defects, sharing features with DiGeorge/velocardiofacial (DGS/VCFS) syndrome. Conclusions The altered gene expression together with other genetic, nongenetic, epigenetic or environmental factors can cause the extremely variable phenotype in patients carrying such duplication. Therefore, we can consider MRKH syndrome to be one of the clinical features of DGS/VCFS syndrome. |
| Related Links | https://jmedicalcasereports.biomedcentral.com/counter/pdf/10.1186/s13256-021-02716-6.pdf |
| Ending Page | 6 |
| Page Count | 6 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 17521947 |
| DOI | 10.1186/s13256-021-02716-6 |
| Journal | Journal of Medical Case Reports |
| Issue Number | 1 |
| Volume Number | 15 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2021-04-21 |
| Access Restriction | Open |
| Subject Keyword | Medicine Public Health General Practice Family Medicine Primary Care Medicine Surgical Oncology Internal Medicine Mayer-Rokitansky-Küster-Hauser syndrome Müllerian anomalies Multiple congenital anomalies 22q11.2 microduplication Medicine/Public Health |
| Content Type | Text |
| Resource Type | Case study |
| Subject | Medicine |
| Journal Impact Factor | 0.9/2023 |
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