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.
摘要：
我们报告了一例具有核型48，XXY，18，其母亲高龄，在怀孕初期感染了SARS-CoV-2病毒。在新生儿中观察到的临床特征包括宫内发育迟缓，畸形面部特征，双手手指重叠,呼吸窘迫综合征,室间隔缺损,动脉导管未闭,持续性肺动脉高压,和双侧马蹄内翻足,主要与爱德华兹综合征（18三体）相关的表型。据我们所知,这是克罗地亚首例双非整倍体病例.本文详细介绍了所使用的临床表现和治疗策略，目的是为将来识别和管理类似案件提供有价值的数据。此外，我们讨论了可能导致这种罕见的非整倍性的非分离机制。
