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, Emese Horváth, Tibor Kalmár, Zoltán Maróti, Imre Földesi, Csaba Bereczki

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Article in Journal of pediatric genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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6 authors.

Magdolna KósaDepartment of Pediatrics and Pediatric Health Center, Albert Szent-Györgyi Health Centre, University of Szeged, Szeged, Hungary.ORCID 0000-0002-0642-9882

Emese HorváthDepartment of Medical Genetics, Albert Szent-Györgyi Health Centre, University of Szeged, Szeged, Hungary.

Tibor KalmárDepartment of Pediatrics and Pediatric Health Center, Albert Szent-Györgyi Health Centre, University of Szeged, Szeged, Hungary.ORCID 0000-0002-0419-2009

Zoltán MarótiDepartment of Pediatrics and Pediatric Health Center, Albert Szent-Györgyi Health Centre, University of Szeged, Szeged, Hungary.ORCID 0000-0002-0515-117X

Imre FöldesiDepartment of Laboratory Medicine, Albert Szent-Györgyi Health Centre, University of Szeged, Szeged, Hungary.

Csaba BereczkiDepartment of Pediatrics and Pediatric Health Center, Albert Szent-Györgyi Health Centre, University of Szeged, Szeged, Hungary.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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

Indexed as

cyclic vomiting syndromediaphragmatic relaxationfollow-upmosaic trisomy 18MT-ND6 mutation

Identifiers

PMID39502855

DOI10.1055/s-0042-1757621

PMCPMC11534437

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