First Croatian Case of Double Aneuploidy: A Child With Klinefelter and Edwards Syndrome (48,XXY,+18) - Possible Causes and Contributing Factors
Jazyk angličtina Země Česko Médium print
Typ dokumentu kazuistiky, časopisecké články
PubMed
37384808
DOI
10.14712/18059694.2023.13
PII: am_2023066010032
Knihovny.cz E-zdroje
- Klíčová slova
- COVID 19, Edwards Syndrome, Klinefelter Syndrome, aneuploidy, genetic nondisjunctions,
- MeSH
- aneuploidie MeSH
- COVID-19 * komplikace MeSH
- lidé MeSH
- SARS-CoV-2 MeSH
- syndrom trizomie 18 komplikace MeSH
- těhotenství MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Geografické názvy
- Chorvatsko MeSH
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.
Department of Neonatology University Hospital Centre Split Split Croatia
Department of Pediatrics University Hospital Centre Split Split Croatia
University of Split School of Medicine Split Croatia
University of Split University Department of Health Studies Split Croatia
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