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J Pediatr Genet 2024; 13(04): 320-325
DOI: 10.1055/s-0042-1757621
Case-Based Review

A Patient Diagnosed with Mosaic Trisomy 18 Presenting New Symptoms: Diaphragmatic Relaxation and Cyclic Vomiting Syndrome. Updated Review of Mosaic Trisomy 18 Cases

Magdolna Kósa 
1   Department of Pediatrics and Pediatric Health Center, Albert Szent-Györgyi Health Centre, University of Szeged, Szeged, Hungary
,
Emese Horváth
2   Department of Medical Genetics, Albert Szent-Györgyi Health Centre, University of Szeged, Szeged, Hungary
,
Tibor Kalmár 
1   Department of Pediatrics and Pediatric Health Center, Albert Szent-Györgyi Health Centre, University of Szeged, Szeged, Hungary
,
Zoltán Maróti 
1   Department of Pediatrics and Pediatric Health Center, Albert Szent-Györgyi Health Centre, University of Szeged, Szeged, Hungary
,
Imre Földesi
3   Department of Laboratory Medicine, Albert Szent-Györgyi Health Centre, University of Szeged, Szeged, Hungary
,
Csaba Bereczki
1   Department of Pediatrics and Pediatric Health Center, Albert Szent-Györgyi Health Centre, University of Szeged, Szeged, Hungary
› Author Affiliations Funding This study was supported by the GINOP-2.3.2-15-2 grant (to T.K. and Z.M.) provided by the National Research, Development and Innovation Office (Hungary). The state funders had played no role in the study design, data collection, analysis, decision to publish, or preparation of the manuscript.
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Abstract

Although data on T18 are widespread, there is a lack of knowledge on mosaic trisomy 18 (mT18). A current review of mT18 symptomatology, long-term follow-up, and potential health risks is lacking for health care professionals. Our paper addresses these, emphasizing the importance of regular tumor screening as a key message for mT18 patient follow-up. We also present the case of a female patient with mT18 who presented with diaphragmatic relaxation and cyclic vomiting syndrome (CVS), which had previously not been reported in this genetic condition. On further investigating the etiology of CVS, we revealed a novel mitochondrial mutation in the MT-ND6 gene in heteroplasmic form. Based on the literature, we hypothesize that the mitochondrial mutation together with mT18 could result in CVS.

Keywords

mosaic trisomy 18 - follow-up - cyclic vomiting syndrome - MT-ND6 mutation - diaphragmatic relaxation

Ethical Approval

The retrospective study was approved by the Human Investigation Board, University of Szeged, Hungary (208/2018-SZTE).


Supplementary Material



Publication History

Received: 07 June 2021

Accepted: 31 August 2022

Article published online:
01 December 2022

© 2022. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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