ACTA MEDICA
ACTA MEDICA
Acta Medica (Hradec Králové) je víceoborový vědecký recenzovaný časopis vycházející v angličtině. Acta Medica publikují review, původní články, stručná sdělení, případové studie a oznámení. Časopis byl založen v roce 1958 pod názvem Sborník vědeckých prací Lékařské fakulty Univerzity Karlovy v Hradci Králové. Je indexován v databázích Chemical Abstracts, CNKI, DOAJ, EBSCO, Hinari, Index Medicus, MEDLINE, Scopus a Ulrichsweb.

ACTA MEDICA, Vol 66 No 1 (2023), 32–36

First Croatian Case of Double Aneuploidy: A Child With Klinefelter and Edwards Syndrome (48,XXY,+18) – Possible Causes and Contributing Factors

Ena Batinović, Anet Papazovska Cherepnalkovski, Bernarda Lozić, Luka Brajković, Ivana Zanchi, Vesna Pavlov, Marija Bucat

DOI: https://doi.org/10.14712/18059694.2023.13
zveřejněno: 26. 06. 2023

Abstract

We report a case of double aneuploidy in a preterm male newborn with karyotype 48,XXY,+18 whose mother was of advanced age and infected with the SARS-CoV-2 virus during the early stages of her pregnancy. The clinical features observed in the newborn included intrauterine growth retardation, dysmorphic facial features, overlapping fingers on both hands, respiratory distress syndrome, ventricular septal defect, patent ductus arteriosus, persistent pulmonary hypertension, and bilateral clubfoot, a phenotype that mainly correlates with Edwards syndrome (trisomy 18). To our knowledge, this is the first reported case of double aneuploidy in Croatia. This paper provides a detailed description of the clinical presentation and treatment strategies used, with the aim of providing valuable data for future recognition and management of similar cases. Furthermore, we discuss the mechanisms of nondisjunction that might account for this rare form of aneuploidy.

klíčová slova: aneuploidy; COVID 19; genetic nondisjunctions; Edwards Syndrome; Klinefelter Syndrome

Creative Commons License
First Croatian Case of Double Aneuploidy: A Child With Klinefelter and Edwards Syndrome (48,XXY,+18) – Possible Causes and Contributing Factors is licensed under a Creative Commons Attribution 4.0 International License.

210 x 297 mm
vychází: 4 x ročně
cena tištěného čísla: 150 Kč
ISSN: 1211-4286
E-ISSN: 1805-9694

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