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Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report

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 defect...

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Autores principales: Dell’Edera, Domenico, Allegretti, Arianna, Ventura, Mario, Mercuri, Ludovica, Mitidieri, Angela, Cuscianna, Giacinto, Epifania, Annunziata Anna, Morizio, Elisena, Alfonsi, Melissa, Guanciali-Franchi, Paolo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8058992/
https://www.ncbi.nlm.nih.gov/pubmed/33883018
http://dx.doi.org/10.1186/s13256-021-02716-6
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author Dell’Edera, Domenico
Allegretti, Arianna
Ventura, Mario
Mercuri, Ludovica
Mitidieri, Angela
Cuscianna, Giacinto
Epifania, Annunziata Anna
Morizio, Elisena
Alfonsi, Melissa
Guanciali-Franchi, Paolo
author_facet Dell’Edera, Domenico
Allegretti, Arianna
Ventura, Mario
Mercuri, Ludovica
Mitidieri, Angela
Cuscianna, Giacinto
Epifania, Annunziata Anna
Morizio, Elisena
Alfonsi, Melissa
Guanciali-Franchi, Paolo
author_sort Dell’Edera, Domenico
collection PubMed
description 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.
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spelling pubmed-80589922021-04-21 Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report Dell’Edera, Domenico Allegretti, Arianna Ventura, Mario Mercuri, Ludovica Mitidieri, Angela Cuscianna, Giacinto Epifania, Annunziata Anna Morizio, Elisena Alfonsi, Melissa Guanciali-Franchi, Paolo J Med Case Rep Case Report 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. BioMed Central 2021-04-21 /pmc/articles/PMC8058992/ /pubmed/33883018 http://dx.doi.org/10.1186/s13256-021-02716-6 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Dell’Edera, Domenico
Allegretti, Arianna
Ventura, Mario
Mercuri, Ludovica
Mitidieri, Angela
Cuscianna, Giacinto
Epifania, Annunziata Anna
Morizio, Elisena
Alfonsi, Melissa
Guanciali-Franchi, Paolo
Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report
title Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report
title_full Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report
title_fullStr Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report
title_full_unstemmed Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report
title_short Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report
title_sort mayer-rokitansky-küster-hauser syndrome with 22q11.21 microduplication: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8058992/
https://www.ncbi.nlm.nih.gov/pubmed/33883018
http://dx.doi.org/10.1186/s13256-021-02716-6
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