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Open Access 01-12-2021 | Case report

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

Authors: Domenico Dell’Edera, Arianna Allegretti, Mario Ventura, Ludovica Mercuri, Angela Mitidieri, Giacinto Cuscianna, Annunziata Anna Epifania, Elisena Morizio, Melissa Alfonsi, Paolo Guanciali-Franchi

Published in: Journal of Medical Case Reports | Issue 1/2021

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.

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Title: Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report
Authors: Domenico Dell’Edera
Arianna Allegretti
Mario Ventura
Ludovica Mercuri
Angela Mitidieri
Giacinto Cuscianna
Annunziata Anna Epifania
Elisena Morizio
Melissa Alfonsi
Paolo Guanciali-Franchi
Publication date: 01-12-2021
Publisher: BioMed Central
Published in: Journal of Medical Case Reports / Issue 1/2021
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-021-02716-6

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

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

Abstract

Background

Case presentation

Conclusions

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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