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Case Reports
. 2021 Apr 21;15(1):208.
doi: 10.1186/s13256-021-02716-6.

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

Domenico Dell'Edera  1 , Arianna Allegretti  2 , Mario Ventura  3 , Ludovica Mercuri  3 , Angela Mitidieri  2 , Giacinto Cuscianna  4 , Annunziata Anna Epifania  2 , Elisena Morizio  5 , Melissa Alfonsi  6 , Paolo Guanciali-Franchi  5   6
Affiliations
Case Reports

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

Domenico Dell'Edera et al. J Med Case Rep. .

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.

Keywords: 22q11.2 microduplication; Mayer-Rokitansky-Küster-Hauser syndrome; Multiple congenital anomalies; Müllerian anomalies.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Pedigree of the family. The arrow (red) indicates in the family tree the index case II2 (grey)
Fig. 2
Fig. 2
Nuclear magnetic resonance imaging. Medium sagittal image enhanced in T2. The absence of the uterus (star) is confirmed
Fig. 3
Fig. 3
Nuclear magnetic resonance imaging. Paramedian sagittal image enhanced on the left in T2. Left ovary (arrow) is highlighted
Fig. 4
Fig. 4
Chromosome 22q11.21 duplication in our patient. The top panel shows the ideogram of chromosome 22 with the 22q11.21 duplicated region marked in a small red box (chr22:18890162-21900621). The scatter plot of the a-CGH data, in the central panel, shows a 3.01 Mb microduplication of the22q11.21 region in our patient. The University of California, Santa Cruz (GRCh37/hg19 assembly) genes in the overlapping region are shown in the bottom panel
See this image and copyright information in PMC

References

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