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

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

Izvornik
Acta Medica (Hradec Kralove) (1211-4286) 66 (2023), 1; 32-36

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
COVID 19 ; Edwards Syndrome ; Klinefelter Syndrome ; aneuploidy ; genetic nondisjunctions

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA